pypi: like | Projects | Ecosyste.ms: Papers

10.1016/j.ccell.2020.06.004

Single-Cell RNA-Seq Reveals Cellular Hierarchies and Impaired Developmental Trajectories in Pediatric Ependymoma
Cited by: 86
Author(s): Johannes Gojo, Bernhard Englinger, Li Jiang, Jens Martin Hübner, McKenzie Shaw, Olivia A. Hack, Sibylle Madlener, Dominik Kirchhofer, Ilon Liu, Jason W. Pyrdol, Volker Hovestadt, Emanuele Mazzola, Nathan D. Mathewson, Maria Trissal, Daniela Lötsch, Christian Dorfer, Christine Haberler, Angela Halfmann, Lisa Mayr, Andreas Peyrl, René Geyeregger, Benjamin Schwalm, Monica Mauermann, Kristian W. Pajtler, Till Milde, Marni E. Shore, Jack Geduldig, Kristine Pelton, Thomas Czech, Orr Ashenberg, Kai W. Wucherpfennig, Orit Rozenblatt-Rosen, Sanda Alexandrescu, Keith L. Ligon, Stefan M. Pfister, Aviv Regev, Irene Slavc, Walter Berger, Mario L. Suvà, Marcel Kool, Mariella G. Filbin
Software Mentions: 7
Published: over 4 years ago

10.1007/s00439-020-02228-1

A CRISPR and high-content imaging assay compliant with ACMG/AMP guidelines for clinical variant interpretation in ciliopathies
Cited by: 5
Author(s): Liliya Nazlamova, N. Simon Thomas, Man‐Kim Cheung, Jelmer Legebeke, Jenny Lord, Reuben J. Pengelly, William Tapper, Gabrielle Wheway
Software Mentions: 6
Published: about 4 years ago

10.1038/srep31558

De novo transcriptome assembly and analysis of differentially expressed genes of two barley genotypes reveal root-zone-specific responses to salt exposure
Cited by: 32
Author(s): Camilla Beate Hill, Andrew Cassin, Gabriel Keeble‐Gagnère, Monika S. Doblin, Antony Bacic, Ute Roessner
Software Mentions: 4
Published: over 8 years ago

10.1038/srep23092

Unlocking the genetic diversity of Creole wheats
Cited by: 63
Author(s): Prashant Vikram, Jorge Franco, Juan Burgueño, Huihui Li, Deepmala Sehgal, Carolina Saint Pierre, Claudia Vásquez, Clay Sneller, Maria Tattaris, Carlos Guzmán, Carolina Sansaloni, Guillermo Fuentes-Dávila, M.P. Reynolds, Kai Sonder, Pawan Kumar Singh, Thomas Payne, Peter Wenzl, Achla Sharma, N. S. Bains, Gyanendra Pratap Singh, José Crossa, Sukhwinder Singh
Software Mentions: 3
Published: almost 9 years ago

10.1186/s12864-018-4743-5

Distinctive characters of Nostoc genomes in cyanolichens
Cited by: 30
Author(s): Andrey Gagunashvili, Ólafur S. Andrésson
Software Mentions: 3
Published: over 6 years ago

10.1155/2018/3536495

A Novel Heterozygous Intronic Mutation in the FBN1 Gene Contributes to FBN1 RNA Missplicing Events in the Marfan Syndrome
Cited by: 11
Author(s): Mario Torrado, Emilia Maneiro, Juan Pablo Trujillo-Quintero, Arturo Evangelista, А. И. Михайлов, Lorenzo Monserrat
Software Mentions: 3
Published: over 6 years ago

10.1093/database/bau127

CyanOmics: an integrated database of omics for the model cyanobacterium Synechococcus sp. PCC 7002
Cited by: 15
Author(s): Yaohua Yang, Jie Feng, Tao Li, Feng Ge, Jindong Zhao
Software Mentions: 2
Published: almost 10 years ago

10.3390/genes11121517

Bi-Allelic Pathogenic Variations in MERTK Including Deletions Are Associated with an Early Onset Progressive Form of Retinitis Pigmentosa
Cited by: 8
Author(s): Cathrine Jespersgaard, Mette Bertelsen, Farah Arif, Helene Gellert‐Kristensen, Mingyan Fang, Hanne Jensen, Thomas Rosenberg, Zeynep Tümer, Lisbeth Birk Møller, Karen Brøndum‐Nielsen, Karen Grønskov
Software Mentions: 2
Published: about 4 years ago

10.1002/humu.24005

AG‐exclusion zone revisited: Lessons to learn from 91 intronic NF1 3′ splice site mutations outside the canonical AG‐dinucleotides
Cited by: 20
Author(s): Katharina Wimmer, Esther Schamschula, Annekatrin Wernstedt, Pia Traunfellner, Albert Amberger, Johannes Zschocke, Peter M. Kroisel, Yunjia Chen, Tom Callens, Ludwine Messiaen
Software Mentions: 2
Published: almost 5 years ago

10.26508/lsa.201900353

PISDis a mitochondrial disease gene causing skeletal dysplasia, cataracts, and white matter changes
Cited by: 37
Author(s): Tian Zhao, Caitlin Goedhart, Pingdewinde N. Sam, Rasha Sabouny, Susanne Lingrell, Adam J. Cornish, Ryan E. Lamont, François P. Bernier, David S. Sinasac, Jillian S. Parboosingh, Jean E. Vance, Steven M. Claypool, A. Micheil Innes, Timothy E. Shutt
Software Mentions: 2
Published: almost 6 years ago

10.1371/journal.pcbi.1006078

SARNAclust: Semi-automatic detection of RNA protein binding motifs from immunoprecipitation data
Cited by: 5
Author(s): Iván Dotú, Scott I. Adamson, Benjamin Coleman, Cyril Fournier, Emma Ricart-Altimiras, Eduardo Eyras, Jeffrey H. Chuang
Software Mentions: 2
Published: over 6 years ago

10.1186/1750-1172-8-58

Clinical and molecular characterization of 40 patients with classic Ehlers–Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations
Cited by: 99
Author(s): Marco Ritelli, Chiara Dordoni, Marina Venturini, Nicola Chiarelli, Stefano Quinzani, Michele Traversa, Nicoletta Zoppi, Annalisa Vascellaro, Anita Wischmeijer, Emanuela Manfredini, Livia Garavelli, Piergiacomo Calzavara‐Pinton, Marina Colombi
Software Mentions: 2
Published: over 11 years ago

10.1002/pd.5175

Diagnosis of lethal or prenatal‐onset autosomal recessive disorders by parental exome sequencing
Cited by: 59
Author(s): Karen Stals, Matthew Wakeling, Júlia Baptista, Richard Caswell, Andrew Parrish, Julia Rankin, Carolyn Tysoe, Garan Jones, Adam C. Gunning, Hana Lango Allen, Lisa Bradley, Angela Brady, Helena Carley, Jenny Carmichael, Bruce Castle, Deirdre Cilliers, Helen Cox, Charu Deshpande, Abhijit Dixit, Jacqueline Eason, Frances Elmslie, Andrew E. Fry, Alan Fryer, Muriel Holder, Tessa Homfray, Emma Kivuva, Victoria McKay, Ruth Newbury‐Ecob, Michael Parker, Ravi Savarirayan, Claire Searle, Nora Shannon, Deborah Shears, Sarah Smithson, E. R. A. Thomas, Peter D. Turnpenny, Vinod Varghese, Pradeep Vasudevan, Emma Wakeling, Emma L. Baple, Sian Ellard
Software Mentions: 2
Published: about 7 years ago

10.1002/prot.26070

Exploring the structure and dynamics of proteins in soil organic matter
Cited by: 8
Author(s): Mathias Gotsmy, Yerko Escalona, Chris Oostenbrink, Dražen Petrov
Software Mentions: 2
Published: over 3 years ago

10.1186/s12920-021-00993-0

Diagnostic yield of rare skeletal dysplasia conditions in the radiogenomics era
Cited by: 5
Author(s): Ataf Sabir, Elizabeth Morley, Jameela Sheikh, Alistair Calder, Ana Beleza-Meireles, Moira Cheung, Alessandra Cocca, Mattias Jansson, Suzanne Lillis, Yogen Patel, Shu Yau, Christine Hall, A.C. Offiah, Melita Irving
Software Mentions: 2
Published: over 3 years ago

10.1002/mgg3.257

Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta
Cited by: 35
Author(s): José A. Caparrós-Martín, Mona Aglan, Samia A. Temtamy, Ghada A. Otaify, Maria València, Julián Nevado, Elena Vallespín, Ángela del Pozo, Carmen Prior de Castro, Lucía Calatrava-Ferreras, Pilar Gutiérrez, Ana M. Bueno, Belén Sagastizábal, Encarna Guillén‐Navarro, María Juliana Ballesta-Martínez, Vanesa López González, S Başaran, Ruksan Büyükoğlan, Bilge Sarıkepe, Cecilia Espinoza-Valdez, Francisco Cammarata‐Scalisi, Víctor Martinez-Glez, Karen E. Heath, Pablo Lapunzina, Víctor L. Ruiz‐Pérez
Software Mentions: 2
Published: about 8 years ago

10.1111/cen.13121

<scp>GCK</scp> gene mutations are a common cause of childhood‐onset <scp>MODY</scp> (maturity‐onset diabetes of the young) in Turkey
Cited by: 18
Author(s): Belma Haliloğlu, Gerald Hysenaj, Zeynep Atay, Tülay Güran, Saygın Abalı, Serap Turan, Abdullah Bereket, Sian Ellard
Software Mentions: 2
Published: over 8 years ago

10.3390/genes10120959

Genetic Spectrum of ABCA4-Associated Retinal Degeneration in Poland
Cited by: 17
Author(s): Anna M Tracewska, Beata Kocyła-Karczmarewicz, Agnieszka Rafalska, Joanna Murawska, Joanna Jakubaszko-Jabłónska, Małgorzata Rydzanicz, Piotr Stawiński, Elżbieta Ciara, Muhammad Imran Khan, Arjen Henkes, Alexander Hoischen, Christian Gilissen, Maartje van de Vorst, Frans P.M. Cremers, Rafał Płoski, Krystyna Chrzanowska
Software Mentions: 1
Published: about 5 years ago

10.3390/genes11111240

A Mild Phenotype Caused by Two Novel Compound Heterozygous Mutations in CEP290
Cited by: 5
Author(s): Agnieszka Rafalska, Anna M Tracewska, Anna Turno-Kręcicka, Milena Szafraniec, Marta Misiuk-Hojło
Software Mentions: 1
Published: about 4 years ago

10.3390/genes12020171

A Novel Splice-Site Variant in CACNA1F Causes a Phenotype Synonymous with Åland Island Eye Disease and Incomplete Congenital Stationary Night Blindness
Cited by: 7
Author(s): Usman Mahmood, Cécile Méjécase, Syed S. Ali, Mariya Moosajee, Igor Kozák
Software Mentions: 1
Published: almost 4 years ago

10.3390/genes12020287

Whole Locus Sequencing Identifies a Prevalent Founder Deep Intronic RPGRIP1 Pathologic Variant in the French Leber Congenital Amaurosis Cohort
Cited by: 3
Author(s): Isabelle Perrault, Sylvain Hanein, Xavier Gérard, Nelson Mounguengue, Ryme Bouyakoub, Mohammed Zarhrate, Cécile Fourrage, Fabienne Jabot‐Hanin, Béatrice Bocquet, Isabelle Meunier, Xavier Zanlonghi, Josseline Kaplan, Jean‐Michel Rozet
Software Mentions: 1
Published: almost 4 years ago

10.1186/s40478-019-0781-8

Clinical, histological, and genetic characterization of PYROXD1-related myopathy
Cited by: 12
Author(s): Xavière Lornage, Vanessa Schartner, Inès Balbueno, Valérie Biancalana, Tracey Willis, Andoni Echaniz‐Laguna, Sophie Scheidecker, R. Quinlivan, Michel Fardeau, Edoardo Malfatti, Béatrice Lannes, Caroline A. Sewry, Norma B. Romero, Jocelyn Laporte, Johann Böhm
Software Mentions: 1
Published: over 5 years ago

10.1021/acs.inorgchem.1c01550

Copper Coordination Chemistry of Sulfur Pendant Cyclen Derivatives: An Attempt to Hinder the Reductive-Induced Demetalation in 64/67Cu Radiopharmaceuticals
Cited by: 15
Author(s): Marianna Tosato, Marco Dalla Tiezza, Nóra V. May, Abdirisak Ahmed Isse, Sonia Nardella, Laura Orian, Marco Verona, Christian Vaccarin, André Alker, Helmut R. Mäcke, Paolo Pastore, Valerio Di Marco
Software Mentions: 1
Published: over 3 years ago

10.1007/s13244-017-0588-8

ESR paper on structured reporting in radiology
Cited by: 152
Author(s): European Society of Radiology
Software Mentions: 1
Published: almost 7 years ago

10.3390/s17112487

Village Building Identification Based on Ensemble Convolutional Neural Networks
Cited by: 45
Author(s): Zhiling Guo, Qi Chen, Guoxing Wu, Yang Xu, Ryosuke Shibasaki, Xiaowei Shao
Software Mentions: 1
Published: about 7 years ago

10.1007/s00439-015-1567-0

First genetic analysis of aneurysm genes in familial and sporadic abdominal aortic aneurysm
Cited by: 22
Author(s): Koen M. van de Luijtgaarden, Daphne Heijsman, Alessandra Maugeri, Marjan M. Weiss, Hence J.M. Verhagen, Arne IJpma, Hennie T. Brüggenwirth, Daniëlle Majoor-Krakauer
Software Mentions: 1
Published: over 9 years ago

10.1186/s40246-017-0103-9

In silico prioritization and further functional characterization of SPINK1 intronic variants
Cited by: 8
Author(s): Wenbin Zou, Hao Wu, Arnaud Boulling, David Neil Cooper, Zhao‐Shen Li, Zhuan Liao, Jian‐Min Chen, Claude Férec
Software Mentions: 1
Published: over 7 years ago

10.1186/s40246-019-0193-7

Toward a clinical diagnostic pipeline for SPINK1 intronic variants
Cited by: 6
Author(s): Xin‐Ying Tang, Jin‐Huan Lin, Wenbin Zou, Emmanuelle Masson, Arnaud Boulling, S.Z. Deng, David Neil Cooper, Zhuan Liao, Claude Férec, Zhao‐Shen Li, Jian‐Min Chen
Software Mentions: 1
Published: almost 6 years ago

10.1002/humu.23567

Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort
Cited by: 29
Author(s): Josephina Meester, Maja Sukalo, Kim Schroder, Denny Schanze, Gareth Baynam, Guntram Borck, Nuria C. Bramswig, Duygu Duman, Brigitte Gilbert‐Dussardier, Muriel Holder‐Espinasse, Peter Itin, Diana Johnson, Shelagh Joss, Hannele Koillinen, Fiona McKenzie, Jenny Morton, Heike Nelle, William Reardon, Claudia Roll, Mustafa A. Salih, Ravi Savarirayan, Ingrid Scurr, Miranda Splitt, Elizabeth Thompson, Hannah Titheradge, Colm P. Travers, Lionel Van Maldergem, Margo Whiteford, Dagmar Wieczorek, Geert Vandeweyer, Richard Trembath, Lut Van Laer, Bart Loeys, Martin Zenker, Laura Southgate, Wim Wuyts
Software Mentions: 1
Published: over 6 years ago

10.3390/ijms21010311

Novel Loss-of-Function Variants in CDC14A are Associated with Recessive Sensorineural Hearing Loss in Iranian and Pakistani Patients
Cited by: 7
Author(s): Julia Doll, Susanne M. Kolb, Linda Schnapp, Abolfazl Rad, Franz Rüschendorf, Imran Khan, Abolfazl Adli, A M Hasanzadeh, Daniel Liedtke, Sabine Knaup, Michaela A.H. Hofrichter, Tobias Müller, Marcus Dittrich, Il‐Keun Kong, Hyung‐Goo Kim, Thomas Haaf, Barbara Vona
Software Mentions: 1
Published: almost 5 years ago

10.3390/ijms21093339

Myeloproliferative Diseases as Possible Risk Factor for Development of Chronic Thromboembolic Pulmonary Hypertension—A Genetic Study
Cited by: 10
Author(s): Christina A. Eichstaedt, Jeremias Verweyen, Michael Halank, Nicola Benjamin, Christine Fischer, Eckhard Mayer, Stefan Guth, Christoph B. Wiedenroth, Benjamin Egenlauf, Satenik Harutyunova, Panagiota Xanthouli, Alberto M. Marra, Heinrike Wilkens, Ralf Ewert, Katrin Hinderhofer, Ekkehard Grünig
Software Mentions: 1
Published: over 4 years ago

10.18632/oncotarget.24503

Replication-incompetent gammaretroviral and lentiviral vector-based insertional mutagenesis screens identify prostate cancer progression genes
Cited by: 13
Author(s): Victor M. Bii, Casey P. Collins, Jonah D. Hocum, Grant D. Trobridge
Software Mentions: 1
Published: almost 7 years ago

10.1098/rsif.2017.0512

Numb prevents a complete epithelial–mesenchymal transition by modulating Notch signalling
Cited by: 101
Author(s): Federico Bocci, Mohit Kumar Jolly, Satyendra Chandra Tripathi, Mitzi Aguilar, Samir Hanash, Herbert Levine, José N. Onuchic
Software Mentions: 1
Published: about 7 years ago

10.1590/1678-4685-GMB-2017-0093

Biochemical and molecular characterization of 3-Methylcrotonylglycinuria in an Italian asymptomatic girl
Cited by: 7
Author(s): Claudia Cozzolino, Guido Villani, Giulia Frisso, Emanuela Scolamiero, Lucia Albano, Giovanna Gallo, Roberta Maia de Castro Romanelli, Margherita Ruoppolo
Software Mentions: 1
Published: over 6 years ago

10.1186/1471-2164-14-470

Genomics analysis of potassium channel genes in songbirds reveals molecular specializations of brain circuits for the maintenance and production of learned vocalizations
Cited by: 31
Author(s): Peter V. Lovell, Julia B. Carleton, Claudio V. Mello
Software Mentions: 1
Published: over 11 years ago

10.1186/s12870-016-0877-2

Multi-environment QTL studies suggest a role for cysteine-rich protein kinase genes in quantitative resistance to blackleg disease in Brassica napus
Cited by: 57
Author(s): Nicholas J. Larkan, Harsh Raman, Derek J. Lydiate, Stephen J. Robinson, Fengqun Yu, Denise M. Barbulescu, Rosy Raman, David J. Luckett, W. Burton, Neil Wratten, P. A. Salisbury, S. R. Rimmer, M. Hossein Borhan
Software Mentions: 1
Published: over 8 years ago

10.1002/mgg3.840

Splicing dysregulation contributes to the pathogenicity of several F9 exonic point variants
Cited by: 12
Author(s): Upendra Katneni, Aaron Liss, David D. Holcomb, Nobuko Hamasaki-Katagiri, Ryan Hunt, Haim Bar, Amra Ismail, Anton A. Komar, Chava Kimchi‐Sarfaty
Software Mentions: 1
Published: over 5 years ago

10.1002/mgg3.1516

Compound heterozygous loss of function variants in MYL9 in a child with megacystis–microcolon–intestinal hypoperistalsis syndrome
Cited by: 8
Author(s): Justin L Kandler, Evgenia Sklirou, Audrey C. Woerner, Leslie Walsh, Eleina Cox, Yuan Xue
Software Mentions: 1
Published: about 4 years ago

10.1002/mgg3.660

The identification of a RNA splice variant in TULP1 in two siblings with early‐onset photoreceptor dystrophy
Cited by: 12
Author(s): Sanne K Verbakel, Zeinab Fadaie, B. Jeroen Klevering, Maria M. van Genderen, Ilse Feenstra, Frans P.M. Cremers, Carel B. Hoyng, Susanne Roosing
Software Mentions: 1
Published: over 5 years ago

10.1016/j.ymgmr.2019.100481

Characterization of a novel pathogenic variant in the FECH gene associated with erythropoietic protoporphyria
Cited by: 2
Author(s): Michele C. Kieke, Jacob Klemm, Arthur Rech Tondin, Victor Hugo Medeiros Alencar, Nathan M. Johnson, Ashley M. Driver, Thomas L. Lentz, Gregory J. Fischer, Diane A. Caporale, Luke J. Drury
Software Mentions: 1
Published: over 5 years ago

10.1111/pedi.12289

Characteristics of maturity onset diabetes of the young in a large diabetes center
Cited by: 44
Author(s): Christina D. Chambers, Alexandra Fouts, Fran Dong, Kevin Colclough, Zhenyuan Wang, Sat Dev Batish, Malgorzata Jaremko, Sian Ellard, Andrew T. Hattersley, Georgeanna J. Klingensmith, Andrea K. Steck
Software Mentions: 1
Published: over 9 years ago

10.1371/journal.pntd.0001843

Candidatus Bartonella merieuxii, a Potential New Zoonotic Bartonella Species in Canids from Iraq
Cited by: 45
Author(s): Bruno B Chomel, Audrey C. McMillan-Cole, Rickie W. Kasten, Matthew J. Stuckey, Shingo Sato, Soichi Maruyama, Pedro Diniz, Edward B. Breitschwerdt
Software Mentions: 1
Published: about 12 years ago

10.3390/cancers10110453

Non-Coding Variants in BRCA1 and BRCA2 Genes: Potential Impact on Breast and Ovarian Cancer Predisposition
Cited by: 15
Author(s): Elizabeth Santana Dos Santos, François Lallemand, Les J. Burke, Dominique Stoppa‐Lyonnet, Melissa A. Brown, Sandrine M. Caputo, Étienne Rouleau
Software Mentions: 1
Published: about 6 years ago

10.1186/s13227-016-0054-6

The developmental and genetic bases of apetaly in Bocconia frutescens (Chelidonieae: Papaveraceae)
Cited by: 13
Author(s): Cristina Arango-Ocampo, Favio González, Juan F. Alzate, Natalia Pabón‐Mora
Software Mentions: 1
Published: over 8 years ago

10.3389/fgene.2018.00366

Computational Tools for Splicing Defect Prediction in Breast/Ovarian Cancer Genes: How Efficient Are They at Predicting RNA Alterations?
Cited by: 51
Author(s): Alejandro Moles‐Fernández, Laura Duran-Lozano, Gemma Montalban, Sandra Bonache, Irene López‐Perolio, Mireia Menéndez, Marta Santamariña, Raquel Behar, Ana Blanco, Estela Carrasco, Adrià López‐Fernández, Neda Stjepanovic, Judith Balmañà, Gabriel Capellà, Marta Pineda, Ana Vega, Conxi Lázaro, Miguel de la Hoya, Orland Dı́ez, Sara Gutiérrez‐Enríquez
Software Mentions: 1
Published: over 6 years ago

10.3389/fnmol.2017.00269

Loss of FMRP Impaired Hippocampal Long-Term Plasticity and Spatial Learning in Rats
Cited by: 54
Author(s): Yonglu Tian, Chang Yang, Shujiang Shang, Yijun Cai, Xiaofei Deng, Jian Zhang, Feng Shao, Dong‐Ya Zhu, Yunbo Liu, Guiquan Chen, Jing Liang, Qiang Sun, Zilong Qiu, Chen Zhang
Software Mentions: 1
Published: over 7 years ago

10.3389/fphys.2020.574590

Identification of Novel SCN5A Single Nucleotide Variants in Brugada Syndrome: A Territory-Wide Study From Hong Kong
Cited by: 9
Author(s): Gary Tse, Sharen Lee, Tong Liu, Ho Chuen Yuen, Ian Chi Kei Wong, Chloe Miu Mak, Ngai Shing Mok, Wing Tak Wong
Software Mentions: 1
Published: over 4 years ago

10.1534/g3.120.401714

Programmed Cell Death 2-Like (Pdcd2l) Is Required for Mouse Embryonic Development
Cited by: 2
Author(s): Brendan J Houston, Manon S Oud, Daniel M Aguirre, D. Jo Merriner, Anne E O’Connor, Özlem Okutman, Stéphane Viville, Richard Burke, Joris A. Veltman, Moira K O'Bryan
Software Mentions: 1
Published: about 4 years ago

10.3390/genes7120133

Hybridization Capture-Based Next-Generation Sequencing to Evaluate Coding Sequence and Deep Intronic Mutations in the NF1 Gene
Cited by: 12
Author(s): Karin Soares Gonçalves Cunha, Nathalia Silva Oliveira, Anna Karoline Fausto da Silva, Carolina Cruz de Souza, Audrey Gros, Thomas Bandres, Yamina Idrissi, Jean-Philippe Merlio, R.S. Moura-Neto, Rosane Silva, Mauro Geller, David Cappellen
Software Mentions: 1
Published: about 8 years ago

10.3390/genes10100764

Genotypic Categorization of Loeys-Dietz Syndrome Based on 24 Novel Families and Literature Data
Cited by: 16
Author(s): Letizia Camerota, Marco Ritelli, Anita Wischmeijer, Silvia Majore, Valeria Cinquina, Paola Fortugno, Rosanna Monetta, Laura Gigante, Federica Sangiuolo, Giuseppe Novelli, Marina Colombi, Francesco Brancati
Software Mentions: 1
Published: about 5 years ago

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