Results 161 to 170 of about 87,727 (384)
, 2009 This issue of eMedRef provides information to clinicians on the pathophysiology, diagnosis, and therapeutics of ...
Michels, Thomas C. +2 more
core
Genetic Pigmentary Disorders: From Molecular Mechanisms to Clinical Manifestations
The Journal of Dermatology, EarlyView.ABSTRACT Genetic pigmentary disorders represent a diverse group of genetic conditions characterized by alterations in melanin production and transport and melanocyte development, resulting from single‐gene pathological variants. These disorders encompass both hypopigmentary and hyperpigmentary phenotypes, affecting not only skin pigmentation but also ...
Ken Okamura, Tamio Suzuki
wiley +1 more source
Microcephaly and congenital nephrotic syndrome owing to diffuse mesangial sclerosis: an autosomal recessive syndrome. [PDF]
, 1994 B Z Garty +5 more
openalex +1 more source
Levodopa‐Responsive Dystonia Secondary to CTNNB1 Neurodevelopmental Disorder
Movement Disorders Clinical Practice, EarlyView.
Hanin Algethami +5 more
wiley +1 more source
Epidemiology of hypospadias in China: A nationwide surveillance‐based study, 2010–2020
Andrology, EarlyView.Abstract Background The prevalence of hypospadias varied internationally. However, epidemiological data on hypospadias in contemporary China remain limited. Objectives We aim to examine the epidemiological characteristics of hypospadias in Chinese population.
Chen Zhiyu +7 more
wiley +1 more source
Localization of the human TAX-1 gene to 1q32.1: a region implicated in microcephaly and Van der Woude syndrome [PDF]
, 1993 Susan Kenwrick +4 more
openalex +1 more source
Brain Pathology, EarlyView.Sphingolipids are vital components of cell membranes. Metabolic disruptions of sphingolipids, including ceramide and sphingosine‐1‐phosphate, are linked to neurological disorders. This article summarizes the classification, structure, and metabolic processes of sphingolipids, and the physiological and pathological effects of sphingolipid metabolism and
Tian Li +7 more
wiley +1 more source
Possible Association Between Zika Virus Infection and Microcephaly - Brazil, 2015.
MMWR. Morbidity and mortality weekly report, 2016 L. Schuler‐Faccini +14 more
semanticscholar +1 more source
Reply: “Leigh Syndrome Due to the Variant c.1019T>C in COX15”
Movement Disorders Clinical Practice, EarlyView.
Haya S. AlFaris +8 more
wiley +1 more source