Zobrazeno 1 - 10
of 1 528
pro vyhledávání: '"happy demeanor"'
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Korbinian M. Riedhammer, Ayman W. El-Hattab, Fowzan S. Alkuraya, Hessa S. Alsaif, Mirjana Gusic, Timothy Jicinsky, Maha Abdulrahim, Moeenaldeen Al-Sayed, Jehan Suleiman, Weimin Bi, Manal Nicolas-Jilwan, Nabil Moghrabi, Laurie Werner, Srirangan Sampath, Anna L. Burgemeister, Melinda Mundt
Publikováno v:
Hum. Mutat. 40, 1985-1992 (2019)
We report four unrelated children with homozygous loss-of-function variants in TASP1 and an overlapping phenotype comprising developmental delay with hypotonia and microcephaly, feeding difficulties with failure-to-thrive, recurrent respiratory infec
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c4d2079d27f4f4ebe27c3ad9c72182f9
https://pubmed.ncbi.nlm.nih.gov/31209944
https://pubmed.ncbi.nlm.nih.gov/31209944
Publikováno v:
Indian Pediatrics Case Reports, Vol 2, Iss 2, Pp 84-87 (2022)
Background: Behavioral phenotypes are observable patterns of behavior present in certain genetic syndromes that have distinctive social, linguistic, cognitive, and motor profiles. These may play an important role as pointers toward certain genetic di
Externí odkaz:
https://doaj.org/article/be1aeea22a884bdfbd5e131d16b3185b
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Background:ZEB2 gene mutations or deletions cause Mowat-Wilson syndrome (MWS), which is characterized by distinctive facial features, global developmental delay, intellectual disability, epilepsy, friendly and happy personalities, congenital heart di
Externí odkaz:
https://doaj.org/article/5ff2400927254d0dac5a95e63c16bc11
Publikováno v:
Annals of Indian Academy of Neurology, Vol 23, Iss 3, Pp 347-351 (2020)
Guanidinoacetate methyltransferase (GAMT) deficiency is the second most common defect in the creatine metabolism pathway resulting in cerebral creatine deficiency syndrome (CCDS). We report three patients from two unrelated families, diagnosed with G
Externí odkaz:
https://doaj.org/article/a7be030f14ca4ab4aaf596b17956e182
Publikováno v:
Annals of Indian Academy of Neurology. May/Jun2020, Vol. 23 Issue 3, p347-351. 5p.
Publikováno v:
Annals of Indian Academy of Neurology, Vol 23, Iss 3, Pp 347-351 (2020)
Annals of Indian Academy of Neurology
Annals of Indian Academy of Neurology
Guanidinoacetate methyltransferase (GAMT) deficiency is the second most common defect in the creatine metabolism pathway resulting in cerebral creatine deficiency syndrome (CCDS). We report three patients from two unrelated families, diagnosed with G
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dea6efafcf1e20edf537ddfc42aed992
https://doi.org/10.4103/aian.aian_367_18
https://doi.org/10.4103/aian.aian_367_18
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Patel, Tanviben, Othman, Amna A, Sümer, Ömer, Hellman, Fabio, Krawitz, Peter, André, Elisabeth, Ripper, Molly E, Fortney, Chris, Persky, Susan, Hu, Ping, Tekendo-Ngongang, Cedrik, Hanchard, Suzanna Ledgister, Flaharty, Kendall A, Waikel, Rebekah L, Duong, Dat, Solomon, Benjamin D
Publikováno v:
Bioinformatics; 2024 Supplement, Vol. 40, pi110-i118, 9p
Autor:
Dulce R Guedes, Maria Isabel Melaragno, Beatriz Moraes Grossi, Rodrigo Ambrosio Fock, Mirlene C. S. P. Cernach, Mileny E. S. Colovati, Gabriela Dias Nunes
Publikováno v:
Cytogenetic and genome research. 158(4)
Prader-Willi syndrome (PWS) and recurrent 15q13.3 microdeletion syndrome can be caused by genomic rearrangements in the complex 15q11q13 chromosomal region. Here, we describe the first female child with PWS and 15q13.3 microdeletion syndrome resultin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::98069d0a0a889505d6bb16030a32f85b
https://pubmed.ncbi.nlm.nih.gov/31394532
https://pubmed.ncbi.nlm.nih.gov/31394532