Results 191 to 200 of about 1,301,608 (363)

CREATINURIA AMONG ADOLESCENT MALES

open access: hybrid, 1934
ARTHUR B. LIGHT, Clark R. Warren
openalex   +1 more source

The Head Circumference Height Index (HCH‐I) to Quantify Relative Macrocephaly and Aid Identification of Hypochondroplasia in Children

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Hypochondroplasia (HCH) is a rare skeletal dysplasia caused by pathogenic variants in the FGFR3 gene. We hypothesized that the relative disproportion between head circumference and height in HCH might be diagnostically informative and generated a simple index of head‐stature disproportion to help pediatricians diagnose HCH.
Moira S. Cheung   +3 more
wiley   +1 more source

A Novel Missense Variant in LMX1A Leads to Autosomal Dominant Nonsyndromic Hearing Loss

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Hereditary nonsyndromic hearing loss (NSHL) is a prevalent entity associated with over 150 known causative genes, including LMX1A, which has fewer than 10 reported pathogenic variants. Here we present a novel missense variant in LMX1A in a family of European descent with hereditary hearing loss. Clinical and family histories were obtained, and
Ryan Chen   +3 more
wiley   +1 more source

PRINCIPLES OF ADOLESCENT PSYCHOLOGY

open access: bronze, 1937
Edmund S. Conklin
openalex   +1 more source

Equitable Collaboration Between LMIC and HIC Researchers, Part I: A Preliminary Framework for Capacity Building in Psychiatric Genetics Research

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT International collaborations between high‐income countries (HICs) and low‐ and middle‐income countries (LMICs) have become increasingly essential in advancing global health, particularly within psychiatric research. These partnerships not only accelerate scientific discovery and enhance public health, but they also bring to light significant ...
Brenda Cabrera‐Mendoza   +27 more
wiley   +1 more source

Adaptação da escala Brian para uso em crianças e adolescentes: um estudo preliminar

open access: yesClinical and Biomedical Research, 2013
Introdução: Alterações nos ritmos circadianos tem sido frequentemente observadas entre pacientes com Transtorno do Humor Bipolar (THB). No entanto, existem poucos instrumentos para medi-las e a maioria deles mede exclusivamente distúrbios do sono.
Ana Claudia Mércio Loredo Souza   +8 more
doaj  

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