Results 121 to 130 of about 62,976 (282)
AP2M1 Is a Candidate Gene for Microcephaly and Intellectual Disability in 3q27.1 Deletions
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Deletions of the 3q26.33q27.2 region appear to correlate with a distinct phenotype, although there are few reported cases. Here, we present seven previously unreported individuals carrying de novo 3q27 deletions (under 5 Mb), which include the AP2M1 (adaptor‐related protein complex 2, mu‐1 subunit) gene and summarize data from 12 previously ...
Russell Gear +16 more
wiley +1 more source
, 2020 MEL Y DIANO recoge un estudio teórico-práctico en el que vemos cómo la melancolía ha ido evolucionando en el tiempo. Muchos han sido los artistas que la han tratado y el hacer algo diferente ha supuesto un gran reto. Por ello, Mel y Diano proviene de la combinación de los términos melancolía y lo cotidiano, los cuales han sido claves en el desarrollo ...
openaire +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Neuroaxonal dystrophy (NAD) with osteopetrosis syndrome (OMIM # 600329) was first reported in a consanguineous Moroccan Jewish family. However, to date, no genetic variant has been linked to this disease. We report on sibs, born to consanguineous Pakistani parents identified prenatally with cerebral ventriculomegaly and agenesis of the corpus ...
Yael Fisher +6 more
wiley +1 more source
ARMAZENAMENTO DE MAÇÃ 'FUJI' COM INCIDÊNCIA DE PINGO-DE-MEL [PDF]
, 2001 Auri Brackmann +2 more
openalex +1 more source
Genomic Analysis of Trichotillomania
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT Trichotillomania (TTM) is a psychiatric condition in which people feel an overwhelming urge to pull out their hair, resulting in noticeable hair loss and significant distress. Twin and family studies suggest that TTM is at least partly genetic, but no genome‐wide analyses have been completed.
Matthew W. Halvorsen +4 more
wiley +1 more source
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Turner Syndrome (TS) is a sex chromosomal disorder associated with karyotype heterogeneity. Although TS can be associated with severe prenatal findings, most often linked to the 45, X karyotype, the majority of TS fetuses have no overt phenotype, resulting in delayed diagnosis and management.
Ivonne Bedei +10 more
wiley +1 more source
As formações vegetais da planicie litoranea da Ilha do Mel, Parana, Brasil
, 1998 Sandro Menezes-Silva
openalex +1 more source