نتائج البحث - "Mélanie Tanguy"

المساهمون: Human Genetics, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, ARD - Amsterdam Reproduction and Development, ACS - Pulmonary hypertension & thrombosis

المصدر: Genetics in medicine, 24(6), 1261-1273. Lippincott Williams and Wilkins
GENETICS IN MEDICINE
Genet Med

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::158b0e320e882cf61f6d36ec60d62c1a

9

Author response for 'Biallelic TMEM260 variants cause Truncus Arteriosus, with or without renal defects'

المؤلفون: null Alistair T. Pagnamenta, null Adam Jackson, null Rahat Perveen, null Glenda Beaman, null Gemma Petts, null Asheeta Gupta, null Zerin Hyder, null Brian Hon‐Yin Chung, null Anita Sik‐Yau Kan, null Ka Wang Cheung, null Wilhelmina S. Kerstjens‐Frederikse, null Kristin M. Abbott, null John C. Ambrose, null Prabhu Arumugam, null Roel Bevers, null Marta Bleda, null Freya Boardman‐Pretty, null Christopher R. Boustred, null Helen Brittain, null Mark J. Caulfield, null Georgia C. Chan, null Greg Elgar, null Tom Fowler, null Adam Giess, null Angela Hamblin, null Shirley Henderson, null Tim J. P. Hubbard, null Rob Jackson, null Louise J. Jones, null Dalia Kasperaviciute, null Melis Kayikci, null Athanasios Kousathanas, null Lea Lahnstein, null Sarah E. A. Leigh, null Ivonne U. S. Leong, null Javier F. Lopez, null Fiona Maleady‐Crowe, null Meriel McEntagart, null Federico Minneci, null Loukas Moutsianas, null Michael Mueller, null Nirupa Murugaesu, null Anna C. Need, null Peter O′Donovan, null Chris A. Odhams, null Christine Patch, null Mariana Buongermino Pereira, null Daniel Perez‐Gil, null John Pullinger, null Tahrima Rahim, null Augusto Rendon, null Tim Rogers, null Kevin Savage, null Kushmita Sawant, null Richard H. Scott, null Afshan Siddiq, null Alexander Sieghart, null Samuel C. Smith, null Alona Sosinsky, null Alexander Stuckey, null Mélanie Tanguy, null Ana Lisa Taylor Tavares, null Ellen R. A. Thomas, null Simon R. Thompson, null Arianna Tucci, null Matthew J. Welland, null Eleanor Williams, null Katarzyna Witkowska, null Suzanne M. Wood, null Orly Elpeleg, null Jenny C. Taylor, null Siddharth Banka, null Asaf Ta‐Shma, null Genomics England Research Consortium

مصطلحات موضوعية: medicine.medical_specialty, business.industry, Internal medicine, Cardiology, medicine, business, Truncus arteriosus

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::538351116d337271a32222545c4dbf6b
https://doi.org/10.1111/cge.14071/v2/response1

10

Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosis

المؤلفون: Zerin Hyder, Eduardo Calpena, Yang Pei, Rebecca S. Tooze, Helen Brittain, Stephen R.F. Twigg, Deirdre Cilliers, Jenny E.V. Morton, Emma McCann, Astrid Weber, Louise C. Wilson, Andrew G.L. Douglas, Ruth McGowan, Anna Need, Andrew Bond, Ana Lisa Taylor Tavares, Ellen R.A. Thomas, John C. Ambrose, Prabhu Arumugam, Roel Bevers, Marta Bleda, Christopher R. Boustred, Georgia C. Chan, Greg Elgar, Tom Fowler, Adam Giess, Angela Hamblin, Shirley Henderson, Tim J.P. Hubbard, Rob Jackson, Louise J. Jones, Dalia Kasperaviciute, Melis Kayikci, Athanasios Kousathanas, Lea Lahnstein, Sarah E.A. Leigh, Ivonne U.S. Leong, Javier F. Lopez, Fiona Maleady-Crowe, Meriel McEntagart, Federico Minneci, Loukas Moutsianas, Michael Mueller, Nirupa Murugaesu, Peter O’Donovan, Chris A. Odhams, Christine Patch, Mariana Buongermino Pereira, Daniel Perez-Gil, John Pullinger, Tahrima Rahim, Augusto Rendon, Tim Rogers, Kevin Savage, Kushmita Sawant, Afshan Siddiq, Alexander Sieghart, Samuel C. Smith, Alona Sosinsky, Alexander Stuckey, Mélanie Tanguy, Simon R. Thompson, Arianna Tucci, Matthew J. Welland, Eleanor Williams, Katarzyna Witkowska, Suzanne M. Wood, Susan L. Hill, Zandra C. Deans, Freya Boardman-Pretty, Mark Caulfield, Richard H. Scott, Andrew O.M. Wilkie

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics

مصطلحات موضوعية: Proband, medicine.diagnostic_test, Base Sequence, business.industry, Chromosome Mapping, Genomics, Disease, Bioinformatics, medicine.disease, Genome, DNA sequencing, Article, Craniosynostosis, Craniosynostoses, Rare Diseases, medicine, Humans, Genetic Testing, Medical diagnosis, business, Genetics (clinical), Genetic testing

وصف الملف: archive

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b9eed5d7ca7a0485c39fbde57ad0b2d7
https://doi.org/10.1038/s41436-021-01297-5

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