المؤلفون: Giulio Piluso, Katharina Wimmer, Veronica Saletti, Eniko K. Pivnick, Geraldine Kelly-Mancuso, Karen W. Gripp, Cristin Griffis, Louanne Hudgins, Alessandro De Luca, Michael F. Wangler, M. Daniela D'Agostino, Marica Eoli, Cynthia M. Powell, Laura A. Baker, Mayra Martinez Ojeda, Silvia Esposito, Elizabeth A. Sellars, Kory Keller, David D. Weaver, James T. Bennett, Nicole J. Ullrich, Allison L. Goetsch, Donald Basel, Bruce R. Korf, Stephanie Fox, Katelyn Hodge, Laura Dosa, Robert S. Greenwood, Mario Bengala, Andrea M. Lewis, Ruth Sheffer, Valentina Pinna, Fanny Cortés, Dusica Babovic-Vuksanovic, Aaina Kochhar, Rosemarie Smith, Concepción Hernández-Chico, Elizabeth Siqveland, Robert Listernick, Lola K. Clarkson, Punita Gupta, E. Haan, Martin B. Delatycki, Amy Theos, Noa Ruhrman Shahar, Teresa Giugliano, Carey McDougall, Mitch Cunningham, David W. Stockton, Tom Callens, Maria Cristina Digilio, Yunjia Chen, Ludwine Messiaen, Eva Trevisson, Samantha A. Schrier Vergano, Caleb Rogers, Magdalena Koczkowska, Kathleen Claes, Christine Fauth, Jan Liebelt, Pamela Trapane, Eric Johns, John M. Slopis, Chelsea Chambers, Tamara L. Haygarth, Lesley K. McGregor, Alberto Spalice, Małgorzata J.M. Nowaczyk, Mary Ella M Pierpont, Kaleb Yohay, Alicia Gomes, Vickie Zurcher, Gail E. Tomlinson, Angie W. Lichty, Stephanie E Wallace, Rachel K. Hachen, Isabelle Maystadt, S. Lane Rutledge, Yael Goldberg, Grace Tran, Ulrich A. Schatz, Allison Schreiber, Jenneke van den Ende, Michael J. Lyons, Mary Louise Freckmann, Kim Armfield Uhas, Alesha D. Hicks, Maurizio Clementi, Haley Streff, June Ortenberg, John Pappas, Nancy J. Mendelsohn, Sandra Janssens, Karin Panzer, Yolanda Martin, Elaine H. Zackai, Sandra Giustini, Linlea Armstrong, Katherine A. Bosanko, Angela Sharp, Daryl A. Scott, Jonathan Zonana, Robert J. Hopkin, Eric Legius, Dinel A. Pond, Daniela Melis, Claudia Santoro, Sarah A. Sandaradura

المصدر: Human Mutation. 41:299-315

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, 0303 health sciences, medicine.medical_specialty, education.field_of_study, Pulmonic stenosis, 030305 genetics & heredity, Population, Spinal neurofibromas, Biology, medicine.disease, Phenotype, Gastroenterology, nervous system diseases, 03 medical and health sciences, Internal medicine, Cohort, Genetics, medicine, Missense mutation, Noonan syndrome, Neurofibromatosis, education, Genetics (clinical), 030304 developmental biology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::94e416d43f4f6e31d2ae02dd86a7d5e7Test
https://doi.org/10.1002/humu.23929Test

المؤلفون: Seth I. Berger, Maximilian Muenke, Omkar Hajirnis, Paul Kruszka, David R. Murdock, Raymond J. Louie, Joshua L. Everson, Luis F. Escobar, Chitra Prasad, Maria Iascone, Hülya Kayserili, Raymond A. Poot, Valentina Casa, Nancy J. Clegg, Evelien Zonneveld-Huijssoon, Anna Cereda, Jenna Gaesser, Meena Balasubramanian, Nicole Corsten-Janssen, Mike R. Dekker, Jacob Hogue, Mark J. Stephan, Mauricio R. Delgado, Ariel F. Martinez, Oebele F. Brouwer, Allison Schreiber, Ping Hu, Angie W Lichty, Vickie Zurcher, Kerstin S. Wendt, Karin Weiss, Eloise J. Prijoles, Robert J. Lipinski, Momoko Tanima-Nagai, Matthew A. Deardorff

المساهمون: Karabey, Hülya Kayserili (ORCID 0000-0003-0376-499X & YÖK ID 7945), Kruszka, Paul, Berger, Seth I., Casa, Valentina, Dekker, Mike R., Gaesser, Jenna, Weiss, Karin, Martinez, Ariel F., Murdock, David R., Louie, Raymond J., Prijoles, Eloise J., Lichty, Angie W., Brouwer, Oebele F., Zonneveld-Huijssoon, Evelien, Stephan, Mark J., Hogue, Jacob, Hu, Ping, Tanima-Nagai, Momoko, Everson, Joshua L., Prasad, Chitra, Cereda, Anna, Iascone, Maria, Schreiber, Allison, Zurcher, Vickie, Corsten-Janssen, Nicole, Escobar, Luis, Clegg, Nancy J., Delgado, Mauricio R., Hajirnis, Omkar, Balasubramanian, Meena, Deardorff, Matthew, Poot, Raymond A., Wendt, Kerstin S., Lipinski, Robert J., Muenke, Maximilian, School of Medicine, Department of Medical Genetics, Cell biology

المصدر: Brain
Paediatrics Publications
Brain, 142, 2631-2643. Oxford University Press

مصطلحات موضوعية: 0301 basic medicine, Male, Chromosomal Proteins, Non-Histone, VARIANT, Cohesin complex, Forebrain division, Holoprosencephaly, X-linked inheritance, Cell Cycle Proteins, 030105 genetics & heredity, SMC1A CAUSE, Mice, SONIC-HEDGEHOG, OF-FUNCTION MUTATIONS, Sonic hedgehog, Child, EPILEPSY, Genetics, forebrain division, DEVELOPMENTAL DELAY, Forebrain morphogenesis, DE-LANGE-SYNDROME, Child, Preschool, CORNELIA, Medicine, Female, Adolescent, Biology, ZIC2, 03 medical and health sciences, GLI2, medicine, Animals, Humans, Letters to the Editor, Neural fold, cohesin complex, Infant, Newborn, Infant, Original Articles, medicine.disease, Mice, Inbred C57BL, INDIVIDUALS, 030104 developmental biology, holoprosencephaly, Forebrain, biology.protein, Neurology (clinical), RAD21 MUTATIONS

وصف الملف: pdf; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fed82bfc0052080687c621419beb9552Test
https://pure.eur.nl/en/publications/51e947b8-750f-4483-9714-66e18a1776c5Test

المؤلفون: Wesley Patterson, Barbara R. DuPont, Amy Dobson, Angie W. Lichty, Roger E. Stevenson, Eloise J. Prijoles, Jessica A Cooley Coleman, Jennifer M. Gass, Steven A. Skinner, Savanna Lyda, Catherine A. Ziats, Fatima Abidi

المصدر: Molecular Genetics and Metabolism. 132:S256-S257

مصطلحات موضوعية: Genetics, Endocrinology, Endocrinology, Diabetes and Metabolism, Gene duplication, Pyrosequencing, Biology, Allele, Molecular Biology, Biochemistry

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::5e36b39293193f4af1caaf240b0e209dTest
https://doi.org/10.1016/s1096-7192Test(21)00477-7

المؤلفون: M. Gisele Matheus, L. Kate Clarkson, Angie W. Lichty, Yuri A. Zarate, Kristen J. Champion, Kenton R. Holden

المصدر: Journal of Child Neurology. 29:NP13-NP17

مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, Pathology, medicine.medical_specialty, Tomography Scanners, X-Ray Computed, Brain vasculature, External hydrocephalus, medicine.disease_cause, Magnetic resonance angiography, Neurodevelopmental disorder, Germline mutation, medicine, Humans, Child, skin and connective tissue diseases, Computed tomography angiography, Mutation, medicine.diagnostic_test, business.industry, Noonan Syndrome, Brain, medicine.disease, Magnetic Resonance Imaging, Cerebrovascular Disorders, Pediatrics, Perinatology and Child Health, Noonan syndrome, raf Kinases, Neurology (clinical), business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e2c01b08d5ad24cbe76a6d3a1d159b9Test
https://doi.org/10.1177/0883073813492384Test

المؤلفون: Michael J. Lyons, Frank O. Bartel, Barbara R. DuPont, Alka Dwivedi, Neena L. Champaigne, R. Curtis Rogers, Angie W. Lichty, Steven A. Skinner, David B. Everman, M. Allison Bellomo, Yuri A. Zarate, Barbara C. Gordon, L. Kate Clarkson, Joseph S. Geer, Robert A. Saul, Roger E. Stevenson, Richard J. Schroer, Sara S. Cathey

المصدر: American journal of medical genetics. Part A. (1)

مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Adolescent, DNA Copy Number Variations, Developmental Disabilities, Young Adult, Genes, X-Linked, Intellectual Disability, Intellectual disability, Genetics, medicine, Humans, Copy-number variation, Family history, Autistic Disorder, Child, Genetics (clinical), X chromosome, Oligonucleotide Array Sequence Analysis, Retrospective Studies, Chromosomes, Human, X, business.industry, Infant, Reproducibility of Results, Retrospective cohort study, medicine.disease, Child, Preschool, Autism, Female, Abnormality, business, Neurocognitive

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::04d055ec99e68bf520ea900cec644637Test
https://pubmed.ncbi.nlm.nih.gov/23208842Test