Results 71 to 80 of about 1,410,935 (286)
Comparison of the head circumference measurement between Down syndrome and normal children
Padjadjaran Journal of Dentistry, 2012 Introduction: Growth and development assessment in children is measured by the head circumference measurement or as known as occipital-frontal circumference.
Nur Hanis Adibah Yahya +2 more
doaj +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Biallelic variants in NSMCE2 (MMS21), which encodes the SUMO E3 ligase subunit of the SMC5/6 chromatin‐maintenance complex, have recently been implicated in microcephalic primordial dwarfism (MPD), corresponding to Seckel syndrome type 10 (OMIM #617246).
Cristina Peduto +5 more
wiley +1 more source
Folia MorphologicaBACKGROUND: Body height is an important measurement in the forensic identification of an individual. This study aimed to estimate height from head circumference measurements representative of the population according to age and to create a model for age ...
Seda Sertel Meyvaci +2 more
doaj +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT ADNP‐related Helsmoortel–Van der Aa syndrome (ADNP‐related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity‐dependent neuroprotective protein (ADNP) gene. In addition to ASD, ADNP‐related HVDAS is associated with a wide range of cognitive, behavioral, and physical health ...
Jarrett Fastman +11 more
wiley +1 more source
A Novel Constitutional TUBB Variant Associated With Familial Malformations of Cortical Development
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Most pathogenic tubulin variants arise de novo in sporadic patients, causing severe brain malformations and significant neurodevelopmental impairment. The resulting reproductive disadvantage typically prevents these mutations from being transmitted to offspring.
Elena Cellini +9 more
wiley +1 more source
Small head circumference at birth in schizophrenia
Schizophrenia Research, 1996 The growing evidence for neurodevelopmental basis to schizophrenia has focused attention on the prenatal development of individuals who later develop the illness. Several previous studies have shown reduced birth weight (BW) in schizophrenics and one recently reported smaller birth head circumference (BHC).
H, Kunugi +4 more
openaire +2 more sources
Head Circumference and Brain Volume Trends in Autism Spectrum Disorder
, 2017 A systematic search for an atlas of Head Circumference and Brain Volume of those with Autism Spectrum Disorder and neurotypical ...
Joel Crucitti
core +1 more source
L‐Cysteine and N‐Acetylcysteine Supplementation Improves Clinical Outcome in a Patient With COXPD10
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT MTO1 is a nuclear gene that encodes a mitochondrial protein essential for modifying mitochondrial transfer RNAs (tRNAs) and stabilizing codon‐anticodon interactions to ensure accurate and efficient mitochondrial protein synthesis and oxidative phosphorylation.
Nishitha R. Pillai +5 more
wiley +1 more source
American Journal of Perinatology Reports, 2015 Objective This study aims to determine if shoulder dystocia is associated with a difference in the fetal abdominal (AC) to head circumference (HC) of 50 mm or more noted on antenatal ultrasound.
Loraine Endres +16 more
doaj +1 more source
Comparison of Parametric Indices of Anthropometric and Biomechanical Characteristics of Female Basketball Players, Volleyball Players and Handball Players [PDF]
Biyumikānīk-i varzishī, 2021 Objective: This study aimed to Compare parametric indices of anthropometric and biomechanical characteristics of female basketball, volleyball, and handball players. Methods: This research is purposive comparative-descriptive study. A total of 100 female
Ali Fatahi +2 more
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