Zobrazeno 1 - 10
of 17
pro vyhledávání: '"happy demeanor"'
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
Akademický článek
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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
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
Akademický článek
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Akademický článek
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Autor:
Jonathan I. Arante
Publikováno v:
Applied Psychology Readings ISBN: 9789811080333
This study was conducted in Bgy. 50, 53, 54, 55, and 56 all comprising Zone 7 of the Sta. Clara District, Pasay City, with a total combined 314 households. Forty heads of the households were reported belonging to SAHFs registered in 2014 in their res
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ad7998696dc105db44639c228e7e1ab2
https://doi.org/10.1007/978-981-10-8034-0_8
https://doi.org/10.1007/978-981-10-8034-0_8
Publikováno v:
Journal of Pediatric Neurosciences
Angelman syndrome (AS) is a neurogenetic disorder that usually presents with delayed motor milestones, ataxic gait, mental retardation, language disorder, seizures, sleep disturbances, characteristic facial features, and happy demeanor. The genetic a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d57644e61d86950239ba89d83722a8d5
http://europepmc.org/articles/PMC3888039
http://europepmc.org/articles/PMC3888039