Results 91 to 100 of about 1,410,935 (286)

A Novel Homozygous Nonsense Variant in DCHS1 in a Brazilian Patient With Van Maldergem Syndrome Type 1: Clinical Report and Literature Review

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Van Maldergem syndrome (VMLDS) is an ultra‐rare autosomal recessive disorder characterized by craniofacial dysmorphism, intellectual disability, hypotonia, skeletal anomalies, and feeding difficulties. It is caused by biallelic variants in DCHS1 or FAT4 genes.
Gabriela Roldão Correia‐Costa   +4 more
wiley   +1 more source

Length, weight, head circumference

open access: yes
The body measures height, head circumference, and weight were measured by the experimenter in centimeters and kilos respectively.
Youth of Utrecht
core   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen   +13 more
wiley   +1 more source

Serum Zinc Level at Term Pregnancy and Newborn Anthropometry

open access: yesIndonesian Journal of Obstetrics and Gynecology, 2015
Objective: To determine the relationship between serum zinc level at term pregnancy and newborn anthropometry. Methods: This study is an observational study with cross-sectional design.
Irma Seriana   +2 more
doaj   +1 more source

A literature review on breastfeeding, head circumference and leg length [PDF]

open access: yes, 2012
textHead circumference and leg length are two important markers for disease outcomes in later life. It has been reported that head circumference values in childhood may be closely related to the brain development and future intellectual functioning ...
Chu, Yiyi
core  

Head circumference development curves of migrant and Israeli children, birth until 2 years.

open access: yes, 2018
Head circumference development curves of migrant and Israeli children, birth until 2 years.
Anat Amit Aharon (4922791)   +3 more
core   +1 more source

1,2‐propanediol reformulation improves tribromoethanol safety and reveals pontine GABRA1 enrichment as a candidate mechanistic correlate of anesthesia

open access: yesAnimal Models and Experimental Medicine, EarlyView.
This study develops a reformulated tribromoethanol (TBE) anesthetic using 1,2‐propanediol as a solvent to overcome solvent‐related toxicity. The novel formulation demonstrates, cardiovascular stability, and survival in prolonged protocols. It provides potent, dose‐dependent anesthesia without strain or sex differences.
Xia Li   +3 more
wiley   +1 more source

Head Circumference and IQ in Duchenne MD

open access: yesPediatric Neurology Briefs, 1991
The head circumferences of 64 patients with Duchenne muscular dystrophy were greater than normal and the intellectual performance tested by the Wechsler was significantly impaired in a study performed at The Royal Liverpool Children’s Hospital, Alder Hey,
J Gordon Millichap
doaj   +1 more source

Statistical shape modeling of the human inner ear through micro‐computed tomography imaging

open access: yesThe Anatomical Record, EarlyView.
In this study, 54 cadaveric temporal bone specimens underwent high‐resolution micro‐CT imaging. Images were semi‐automatically segmented and converted to 3D surface mesh models for morphological measurement and analysis. Statistical shape models were created for the inner ear, cochlea, and vestibular system, as well as for sex‐ and side‐based subgroups.
Carmine Spedaliere   +8 more
wiley   +1 more source

Understanding the spacing of placodes in the eye: A comparative study across age and species

open access: yesThe Anatomical Record, EarlyView.
Abstract The conjunctival placodes of the avian eye form in an intriguing and conserved sequence in a circular annulus around the cornea. These 13–16 placodes develop into papillae that are essential for inducing underlying intramembranous flat bones, known as scleral ossicles, which form an important part of the ocular skeleton.
Florence Joseph   +1 more
wiley   +1 more source

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