Results 191 to 200 of about 87,727 (384)
Autosomal dominant microcephaly---lymphoedema-chorioretinal dysplasia syndrome [PDF]
Ingele Casteels
openalex +1 more source
In this prospective sub‐study testing the predictive validity of General Movements Assessment (GMA) and/or Hammersmith Infant Neurological Examination (HINE), 785 infants with birth/infant‐detectable risk factors, aged 12 to 40 weeks corrected age were recruited. GMA and HINE were reliable and accurate tools for screening high‐risk populations in India,
Katherine A. Benfer +13 more
wiley +1 more source
Premature Chromosome Condensation in Humans Associated with Microcephaly and Mental Retardation: A Novel Autosomal Recessive Condition [PDF]
Heidemarie Neitzel +8 more
openalex +1 more source
Constructed growth charts and nutrition for pontocerebellar hypoplasia type 2A
To our knowledge, we are the first to provide constructed disease‐specific growth charts for PCH2A (age 0–18 years). Constructed growth charts (0–2 years) for height, weight, body mass index, and head circumference are compared in a sex‐disaggregated manner to typically developing children. Failure to thrive is evident despite normal caloric intake and
Alice Kuhn +9 more
wiley +1 more source
MEHMO (Mental retardation, Epileptic seizures, Hypogenitalism, Microcephaly, Obesity): a new X-linked mitochondrial disorder [PDF]
Esther Leshinsky‐Silver +6 more
openalex +1 more source
Zika virus in Brazil and macular atrophy in a child with microcephaly
C. Ventura +4 more
semanticscholar +1 more source
Abstract Aim To examine the accuracy of prenatal counselling at a multidisciplinary fetal neurology clinic (FNC) that led to termination of pregnancy (TOP), to improve the quality of future consultations. Method This retrospective diagnostic cohort study compared the imaging (neurosonography and intrauterine magnetic resonance imaging) of fetuses ...
Avi Shariv +12 more
wiley +1 more source
Pure terminal duplication of the short arm of chromosome 19 in a boy with mild microcephaly [PDF]
Sinthia Andries
openalex +1 more source

