المؤلفون: Ourania Parra, Edward Hughes, Dana Wright, Stephanie Vallee, Mary Beth Dinulos, Wahab Khan

المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101642- (2024)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S294977442400788XTest; https://doaj.org/toc/2949-7744Test

الوصول الحر: https://doaj.org/article/68997585529649ee8fecd00e2b143d2fTest

المؤلفون: Heather E, Williams, Lila, Aiyar, Mary Beth, Dinulos, David, Flannery, Michelle L, McClure, Michele A, Lloyd-Puryear, Kunal, Sanghavi, Tracy L, Trotter, David, Viskochil

المصدر: Genetics in Medicine. 24:2211-2219

مصطلحات موضوعية: Genetics, Medical, Humans, Genomics, Genetic Testing, Delivery of Health Care, United States, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::034bba2ce52d0fee7607e20789a88223Test
https://doi.org/10.1016/j.gim.2022.07.017Test

المؤلفون: Ivan Ivanovski, Olivera Djuric, Stefano Giuseppe Caraffi, Daniela Santodirocco, Marzia Pollazzon, Simonetta Rosato, Duccio Maria Cordelli, Ebtesam Abballa, Patrizia Accorsi, Margaret P. Adam, Paola Francesca Ajmone, Magdalena Badura-Stronka, Chiara Baldo, Maddalena Baldi, Allan Bayat, Stefania Bigoni, Federico Bonvicini, Jeroen Breckpot, Bert Callewaert, Guido Cocchi, Goran Cuturilo, Daniele De Brasi, Koenraad Devriendt Mary Beth Dinulos, Tina Duelund Hjortshøj, Roberta Epifanio, Francesca Faravelli, Agata Fiumara, Debora Formisano, Lucio Giordano, Marina Grasso, Sabine Grønborg, Alessandro Iodice, Lorenzo Iughetti, Vladimir Kuburovic, Anna Kutkowska-Kazmierczak, Didier Lacombe, Caterina Lo Rizzo, Anna Luchetti, Baris Malbora, Isabella Mammi, Francesca Mari, Giulia Montorsi, Sebastien Moutton, Rikke S. Møller, Petra Muschke, Jens Erik Klint Nielsen, Ewa Obersztyn, Chiara Pantaleoni, Alessandro Pellicciari, Maria Antonietta Pisanti, Igor Prpic, Maria Luisa Poch-Olive, Federico Raviglione, Alessandra Renieri, Emilia Ricci, Francesca Rivieri, Gijs W. Santen, Salvatore Savasta, Gioacchino Scarano, Ina Schanze, Angelo Selicorni, Margherita Silengo, Robert Smigiel, Luigina Spaccini, Giovanni Sorge, Krzysztof Szczaluba, Luigi Tarani, Luis Gonzaga Tone, Annick Toutain, Aurelien Trimouille, Elvis Terci Valera, Samantha Schrier Vergano, Nicoletta Zanotta, Martin Zenker, Andrea Conidi, Marcella Zollino, Anita Rauch, Christiane Zweier, Livia Garavelli

المساهمون: Ivan Ivanovski, Olivera Djuric, Stefano Giuseppe Caraffi, Daniela Santodirocco, Marzia Pollazzon, Simonetta Rosato, Duccio Maria Cordelli, Ebtesam Abballa, Patrizia Accorsi, Margaret P. Adam, Paola Francesca Ajmone, Magdalena Badura-Stronka, Chiara Baldo, Maddalena Baldi, Allan Bayat, Stefania Bigoni, Federico Bonvicini, Jeroen Breckpot, Bert Callewaert, Guido Cocchi, Goran Cuturilo, Daniele De Brasi, Koenraad Devriendt Mary Beth Dinulos, Tina Duelund Hjortshøj, Roberta Epifanio, Francesca Faravelli, , Agata Fiumara, Debora Formisano, Lucio Giordano, Marina Grasso, Sabine Grønborg, Alessandro Iodice, Lorenzo Iughetti, Vladimir Kuburovic, Anna Kutkowska-Kazmierczak, Didier Lacombe, Caterina Lo Rizzo, Anna Luchetti, Baris Malbora, Isabella Mammi, Francesca Mari, Giulia Montorsi, Sebastien Moutton, Rikke S. Møller, Petra Muschke, Jens Erik Klint Nielsen, Ewa Obersztyn, Chiara Pantaleoni, Alessandro Pellicciari, Maria Antonietta Pisanti, Igor Prpic, Maria Luisa Poch-Olive, Federico Raviglione, Alessandra Renieri, Emilia Ricci, Francesca Rivieri, Gijs W. Santen, Salvatore Savasta, Gioacchino Scarano, Ina Schanze, Angelo Selicorni, Margherita Silengo, Robert Smigiel, Luigina Spaccini, Giovanni Sorge, Krzysztof Szczaluba, Luigi Tarani, Luis Gonzaga Tone, Annick Toutain, Aurelien Trimouille, Elvis Terci Valera, Samantha Schrier Vergano, Nicoletta Zanotta, Martin Zenker, Andrea Conidi, Marcella Zollino, Anita Rauch, Christiane Zweier, Livia Garavelli

مصطلحات موضوعية: Hirschsprung, intellectual disability, management, Mowat–Wilson syndrome, ZEB2

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/29300384; info:eu-repo/semantics/altIdentifier/wos/WOS:000445531800009; volume:20; issue:9; firstpage:965; lastpage:975; numberofpages:11; journal:GENETICS IN MEDICINE; http://hdl.handle.net/11585/645446Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85050603332; https://www.nature.com/articles/gim2017221Test

الإتاحة: https://doi.org/10.1038/gim.2017.221Test
http://hdl.handle.net/11585/645446Test
https://www.nature.com/articles/gim2017221Test

المؤلفون: Noeline Nadarajah, Mark D. Kilby, Maja Hempel, Stephanie E. Vallee, Silvia Martin-Almedina, Rhiannon Mellis, Dionysios Grigoriadis, Sarah Robart, Sahar Mansour, Mary Beth Dinulos, Ege Sackey, Giles Atton, Wolf-Henning Becker, Christina Karapouliou, Kazim Ogmen, Fanny Kortuem, Katherine S. Josephs, Gunnar Houge, Cathrine Ebbing, Pia Ostergaard, Kristiana Gordon, Steve Jeffery, Peter S. Mortimer, Jerome L. Gorski, Axel von der Wense, Alexandra Robinson, Cassandra Polun, Siren Berland, Jenny Lord, Hallvard Reigstad, Sherri J. Bale

المصدر: Genetics in Medicine

مصطلحات موضوعية: 0301 basic medicine, Genetics, Hydrops Fetalis, Receptor, EphB4, Correction, Biology, Subcellular localization, Phenotype, Article, Human genetics, Pathogenesis, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Lymphatic system, Humans, Ephrin, Functional studies, Phosphorylation, Receptor, Genetic Association Studies, 030217 neurology & neurosurgery, Genetics (clinical)

وصف الملف: text; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d85bb601a79f9c38fc8b3b3bf5d3e3c5Test
https://doi.org/10.1038/s41436-021-01136-7Test

المؤلفون: Karen W. Gripp, Ingrid M. Wentzensen, Julie D. Kaplan, Lindsay B. Henderson, Germaine Pierre, Maggie Williams, Anne McRae, Kerstin Kutsche, Jean-Marc Good, Julia Baptista, Marleen Simon, Anirban Majumdar, Mary Beth Dinulos, Andrea Superti-Furga, Ellen van Binsbergen, Lisette Leeuwen, Ingrid Scurr, Sarah F. Smithson, Heather M. McLaughlin

المصدر: European Journal of Human Genetics, 29, 1384-1395. Nature Publishing Group
European journal of human genetics, vol. 29, no. 9, pp. 1384-1395
European Journal of Human Genetics

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Hypertrichosis, Potassium Channels, Adolescent, Small-Conductance Calcium-Activated Potassium Channels, Nails, Malformed, Biology, Article, Craniofacial Abnormalities, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Intellectual Disability, Genetics research, Intellectual disability, Genetics, medicine, Humans, Missense mutation, Abnormalities, Multiple, Child, Gene, Genetics (clinical), Fibromatosis, Gingival, Abnormalities, Multiple/genetics, Abnormalities, Multiple/pathology, Channelopathies/genetics, Channelopathies/pathology, Craniofacial Abnormalities/genetics, Craniofacial Abnormalities/pathology, Ether-A-Go-Go Potassium Channels/genetics, Female, Fibromatosis, Gingival/genetics, Fibromatosis, Gingival/pathology, Gain of Function Mutation, Hallux/abnormalities, Hallux/pathology, Hand Deformities, Congenital/genetics, Hand Deformities, Congenital/pathology, Intellectual Disability/genetics, Intellectual Disability/pathology, Nails, Malformed/genetics, Nails, Malformed/pathology, Phenotype, Potassium Channels/genetics, Small-Conductance Calcium-Activated Potassium Channels/genetics, Thumb/abnormalities, Thumb/pathology, Coarse facial features, medicine.disease, Ether-A-Go-Go Potassium Channels, Paediatric neurological disorders, 030104 developmental biology, Thumb, KCNK4, Hallux, Channelopathies, Hand Deformities, Congenital, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::918739748f0fdc6bed9c9af583939241Test
https://doi.org/10.1038/s41431-021-00818-9Test

المؤلفون: Mary Beth Dinulos, Stephanie E. Vallee

المصدر: Clinics in Laboratory Medicine. 40:61-67

مصطلحات موضوعية: medicine.medical_specialty, medicine.diagnostic_test, Genetic counseling, Biochemistry (medical), Clinical Biochemistry, Psychological intervention, Genetic Counseling, Genome-wide association study, Polymorphism, Single Nucleotide, Direct-To-Consumer Screening and Testing, Physicians, Family medicine, medicine, Humans, Test interpretation, Genetic Testing, Psychology, Genome-Wide Association Study, Genetic testing

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf1d9ded840539a945367c226c0b913cTest
https://doi.org/10.1016/j.cll.2019.11.003Test

المؤلفون: John M. Graham, Joseph T. Shieh, Alan F. Rope, Philip F Giampietro, Lynne M. Bird, Roberta A Pagon, John C. Carey, Katta M. Girisha, Cathy A. Stevens, David D. Weaver, Margaret P. Adam, William B. Dobyns, Bryan D. Hall, Elaine H. Zackai, Chad R. Haldeman-Englert, Anne C. Tsai, A. Micheil Innes, Marc S. Williams, Ian A. Glass, David A. Stevenson, Kenjiro Kosaki, Beth A. Kozel, Jennifer M. Kalish, Michael J. Bamshad, John J. Mulvihill, Robin D. Clark, Anne Slavotinek, Kim M. Keppler-Noreuil, Anita E. Beck, Małgorzata J.M. Nowaczyk, Cynthia J. Curry, Fowzan S. Alkuraya, Ghayda M. Mirzaa, Timothy C. Cox, Anne Amemiya, Karen W. Gripp, Wen-Hann Tan, Andrew K. Sobering, Yuri A. Zarate, Mary Beth Dinulos, Laurie H. Seaver, James T. Bennett, Leslie G. Biesecker, Kyle Retterer, Tiong Yang Tan, Brian H.Y. Chung, Pedro A. Sanchez-Lara

المصدر: Am J Hum Genet

مصطلحات موضوعية: Genetics, Biology, Letter to the Editor, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::441c012c2c0d051d05cb4adcd04a6ce5Test
https://pubmed.ncbi.nlm.nih.gov/34478655Test

المؤلفون: Carey McDougall, Angela Peron, Lauren B. Carter, Thomas P. Slavin, Lynne M. Bird, Mary Beth Dinulos, Cathy A. Stevens, Ian A. Glass, Mais Hashem, Melanie A. Manning, Aglaia Vignoli, Elaine H. Zackai, Agatino Battaglia, Stephanie E. Vallee, Athena M. Cherry, Beth Keena, Margaret P. Adam, John M. Graham, Maura R.Z. Ruzhnikov, Leah Dowsett, Fowzan S. Alkuraya, Laurie H. Seaver, Anita E. Beck, Louanne Hudgins

المصدر: Am J Med Genet A
American journal of medical genetics. Part A, vol 179, iss 8

مصطلحات موضوعية: Male, 0301 basic medicine, Pediatrics, Resuscitation, Chromosome Disorders, Reproductive health and childbirth, Neurodegenerative, 030105 genetics & heredity, Low Birth Weight and Health of the Newborn, Psychological Distress, Hypoxic Ischemic Encephalopathy, Pregnancy, Diagnosis, Infant Mortality, 2.1 Biological and endogenous factors, Medicine, Aetiology, Genetics (clinical), Pediatric, Medical record, Brain, Phenotype, medicine.anatomical_structure, Chromosomes, Human, Pair 1, Neurological, Hypoxia-Ischemia, Brain, Pair 1, Mental health, Female, Chromosome Deletion, Human, medicine.medical_specialty, Physical Injury - Accidents and Adverse Effects, hypoxic ischemic encephalopathy, Intellectual and Developmental Disabilities (IDD), Clinical Sciences, Chromosome Disorder, Chromosomes, Article, Diagnosis, Differential, White matter, 03 medical and health sciences, Neuroimaging, Clinical Research, Preterm, Hypoxia-Ischemia, Genetics, Humans, 1p36, Epilepsy, Periventricular leukomalacia, 1p36 deletion syndrome, business.industry, Neurosciences, Infant, Newborn, Infant, distress, Perinatal Period - Conditions Originating in Perinatal Period, Newborn, medicine.disease, Brain Disorders, Good Health and Well Being, 030104 developmental biology, Differential, business

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::666822da8ce421ba9792ab05c0ea6ac9Test
https://doi.org/10.1002/ajmg.a.61266Test

المؤلفون: Wen-Hann Tan, Małgorzata J.M. Nowaczyk, Joseph T. Shieh, Anne Slavotinek, John M. Graham, Lynne M. Bird, David D. Weaver, Laurie H. Seaver, Anne Amemiya, Ghayda Mirzaa, Beth A. Kozel, Jennifer M. Kalish, John C. Carey, Anita E. Beck, Margaret P. Adam, Bryan D. Hall, Philip F Giampietro, Kim M. Keppler-Noreuil, David A. Stevenson, Karen W. Gripp, Robin D. Clark, Mary Beth Dinulos, William B. Dobyns, Pedro A. Sanchez-Lara, Roberta A Pagon, Andrew K. Sobering, Michael J. Bamshad, Fowzan S. Alkuraya, Tiong Yang Tan, Brian H.Y. Chung, Alan F. Rope, Elaine H. Zackai, Marc S. Williams, John J. Mulvihill, James T. Bennett, Leslie G. Biesecker, Kyle Retterer, Yuri A. Zarate, Timothy C. Cox, Chad R. Haldeman-Englert, Anne C. Tsai, Ian A. Glass, Cynthia J. Curry, Kenjiro Kosaki, A. Micheil Innes, Katta M. Girisha, Cathy A. Stevens

المصدر: Am J Hum Genet
American journal of human genetics, vol 108, iss 1

مصطلحات موضوعية: 0301 basic medicine, Cystic Fibrosis, Genotype, Computer science, Cystic Fibrosis Transmembrane Conductance Regulator, Disease, Computational biology, 030105 genetics & heredity, Medical and Health Sciences, 03 medical and health sciences, symbols.namesake, Rare Diseases, Genetics, medicine, Humans, Mendelian disorders, Letter to the Editor, Genetics (clinical), Simple (philosophy), Genetics & Heredity, Clinical genomics, Extramural, Genetic disorder, Genetic Diseases, Inborn, Genomics, Biological Sciences, medicine.disease, Inborn, 030104 developmental biology, Phenotype, Genetic Diseases, Perspective, Mutation, Mendelian inheritance, symbols

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e76d16801e57a00cb72962d47706399Test
https://pubmed.ncbi.nlm.nih.gov/34478656Test

المؤلفون: Silvia Martin-Almedina, Kazim Ogmen, Ege Sackey, Dionysios Grigoriadis, Christina Karapouliou, Noeline Nadarajah, Cathrine Ebbing, Jenny Lord, Rhiannon Mellis, Fanny Kortuem, Mary Beth Dinulos, Cassandra Polun, Sherri Bale, Giles Atton, Alexandra Robinson, Hallvard Reigstad, Gunnar Houge, Axel von der Wense, Wolf-Henning Becker, Steve Jeffery, Peter S. Mortimer, Kristiana Gordon, Katherine S. Josephs, Sarah Robart, Mark D. Kilby, Stephanie Vallee, Jerome L. Gorski, Maja Hempel, Siren Berland, Sahar Mansour, Pia Ostergaard

المصدر: Genetics in Medicine. 23:1376-1377

مصطلحات موضوعية: Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::bcf8c672d155e31accb161e6766e92f5Test
https://doi.org/10.1038/s41436-021-01202-0Test