Results 81 to 90 of about 1,410,935 (286)
HEAD CIRCUMFERENCE OF MALAYSIAN
, 2014 Percentile head circumference charts, from six to eleven years of age, for boys and girls are presented.
S. T. Chen, School Children
core
Severe Headbanging Responsive to Levodopa in a Child With FOXP1 Syndrome
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT We report a 9‐year‐old female with FOXP1 syndrome due to a de novo in‐frame deletion in the FOXP1 gene. The child has a severe neurodevelopmental disorder including global developmental delay and autism spectrum disorder. At age 2, she developed severe headbanging, which was progressive and did not respond to multidisciplinary, behavioral ...
Pamela Veale +2 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Paternal isodisomy of chromosome 15 (iUPD15) is a recognized cause of Angelman syndrome (AS), accounting for approximately 2%–5% of cases. Additionally, another recognized consequence of iUPD is the unmasking of autosomal recessive disorders. However, reports of recessive disorders resulting from iUPD15 remain scarce in the literature.
Gabriela Roldão Correia‐Costa +4 more
wiley +1 more source
ANTHROPOMETRIC INDICATORS TERM NEWBORN REPUBLIC OF CRIMEA
Мать и дитя в Кузбассе, 2022 The study aims – to determine the values of the main anthropometric indicators of physical development (body weight, body length, head circumference, chest circumference) of full-term newborn children of the Republic of Crimea.
Николай Николаевич Каладзе +1 more
doaj
Jurnal Gizi Indonesia: The Indonesian Journal of Nutrition, 2016 Background: Iodine and iron were micronutrient that highly related with formation of thyroid hormone. Iodine and iron deficiency during pregnancy, will affect fetal development.
Sherly Novitasari +4 more
doaj +1 more source
TTC21B: From Modifier to Causative Gene in Joubert Syndrome
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Biallelic pathogenic variants in TTC21B, encoding the retrograde intraflagellar transport protein IFT139, are a known cause of renal and skeletal ciliopathies. Single heterozygous variants in this gene were found to be enriched in a cohort of patients with various ciliopathy phenotypes, including three individuals with Joubert syndrome (JS), a
Valentina Serpieri +5 more
wiley +1 more source
Antenatal exposure to second hand smoke of non-smoking mothers and growth rate of their infants.
PLoS ONE, 2019 ObjectivesThere is limited evidence on the effect of exposure to second hand smoke (SHS) in non-smoking pregnant mothers and infant health. We assessed the effects of maternal antenatal exposure to SHS on infant growth rate, and secondarily, on birth ...
Frida Soesanti +5 more
doaj +1 more source
, 2019 Univariate and multivariate analyses for the outcomes SDQ-score, cerebral palsy and head circumference.
Gorm Greisen (328005) +4 more
core +1 more source
Biallelic PAX6 Variants in an Adult With Severe Microphthalmia and Preserved Intellectual Function
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT PAX6 encodes a dosage‐sensitive transcription factor that is essential for eye development. Heterozygous PAX6 disease is well characterized, but biallelic disease is extremely rare and has been associated with anophthalmia, severe brain malformations, and perinatal lethality.
Karl De Geer +4 more
wiley +1 more source
Head circumference in neonates with septal defects
Cardiology in the YoungAbstract Background: Neurodevelopmental disorders occur in up to 50% of children with CHD. Small head circumference at birth has been associated with impaired neurodevelopment in patients with complex CHD.
Line Høffner +12 more
openaire +2 more sources