-
1دورية أكاديمية
المؤلفون: Eric Frankel, Avijit Podder, Megan Sharifi, Roshan Pillai, Newell Belnap, Keri Ramsey, Julius Dodson, Pooja Venugopal, Molly Brzezinski, Lorida Llaci, Brittany Gerald, Gabrielle Mills, Meredith Sanchez-Castillo, Chris D. Balak, Szabolcs Szelinger, Wayne M. Jepsen, Ashley L. Siniard, Ryan Richholt, Marcus Naymik, Isabelle Schrauwen, David W. Craig, Ignazio S. Piras, Matthew J. Huentelman, Nicholas J. Schork, Vinodh Narayanan, Sampathkumar Rangasamy
المصدر: Cells, Vol 12, Iss 10, p 1437 (2023)
مصطلحات موضوعية: Rett syndrome, atypical RTT syndrome, Rett-syndrome-like phenotype, methyl-CpG-binding protein 2, neurodevelopmental disorders, overlapping phenotype, Cytology, QH573-671
وصف الملف: electronic resource
-
2دورية أكاديمية
المؤلفون: Keri Ramsey, Newell Belnap, Anna Bonfitto, Wayne Jepsen, Marcus Naymik, Meredith Sanchez‐Castillo, David W. Craig, Szabolcs Szelinger, Matthew J. Huentelman, Vinodh Narayanan, Sampath Rangasamy
المصدر: Molecular Genetics & Genomic Medicine, Vol 10, Iss 2, Pp n/a-n/a (2022)
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2324-9269
-
3
المؤلفون: Keit Men Wong, Wayne M Jepsen, Stephanie Efthymiou, Vincenzo Salpietro, Meredith Sanchez-Castillo, Janice Yip, Yamna Kriouile, Susann Diegmann, Steffi Dreha-Kulaczewski, Janine Altmüller, Holger Thiele, Peter Nürnberg, Mehran Beiraghi Toosi, Javad Akhondian, Ehsan Ghayoor Karimiani, Hannah Hummel-Abmeier, Brenda Huppke, Henry Houlden, Jutta Gärtner, Reza Maroofian, Peter Huppke
المصدر: Brain. 145:3022-3034
مصطلحات موضوعية: Phenotype, Mutation, Microcephaly, Humans, Neurodegenerative Diseases, Transcription Factor TFIID, RNA Polymerase II, Neurology (clinical), Atrophy, Child, TATA-Box Binding Protein
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::384408924bf50d89dca1c5f5caab2ddb
https://doi.org/10.1093/brain/awac154 -
4
المؤلفون: J. Dodson, Ignazio S. Piras, D. W. Craig, Newell Belnap, G. Mills, Ana M. Claasen, Marcus Naymik, Lorida Llaci, Vinodh Narayanan, B. Gerald, Meredith Sanchez-Castillo, P. Venugopal, Chris Balak, Szabolcs Szelinger, Ryan Richholt, Sampath Rangasamy, Raj Gupta, Isabelle Schrauwen, Ashley L. Siniard, M. Brzezinski, Keri Ramsey, Wayne M. Jepsen, M. D. De Both, R. Pillai, E. S. Frankel, M. J. Huentelman, M. Sharifi
مصطلحات موضوعية: Genetics, FOXG1, congenital, hereditary, and neonatal diseases and abnormalities, CDKL5, medicine, Rett syndrome, Atypical Rett syndrome, TCF4, Biology, medicine.disease, Phenotype, Exome sequencing, MECP2
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::07a1c3d78777e2f8e300218f6b5c913b
-
5
المؤلفون: Chris Balak, Szabolcs Szelinger, Marcus Naymik, Vinodh Narayanan, Meredith Sanchez-Castillo, Ignazio S. Piras, Lorida Llaci, Matthew J. Huentelman, Sampathkumar Rangasamy, Cherae Bilagody, Newell Belnap, Matthew De Both, Keri Ramsey, Wayne M. Jepsen, Raj Gupta, Richa Pandey
المصدر: Clinical Genetics. 96:183-185
مصطلحات موضوعية: Genetics, business.industry, Mutation (genetic algorithm), Intellectual disability, MEDLINE, Medicine, business, medicine.disease, Genetics (clinical), De novo mutations
-
6
المؤلفون: Meredith Sanchez-Castillo, Matthew De Both, Cherae Bilagody, Raj Gupta, Richa Pandey, Christopher Balak, Lorida Llaci, Ignazio S. Piras, Sampathkumar Rangasamy, Szabolcs Szelinger, Matthew J. Huentelman, Marcus Naymik, Vinodh Narayanan, Keri E. Ramsey, Newell Belnap, Wayne M. Jepsen
مصطلحات موضوعية: Genetics, Carry (arithmetic), Biology, De novo mutations
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::28a8e8b9d830590c0dcf049f074145af
https://doi.org/10.1111/cge.13580/v2/response1