Results 181 to 190 of about 1,223,979 (292)

Antihypertensive Drugs and Dental Caries Risk: A Drug–Target Mendelian Randomization Analysis

open access: yesInternational Journal of Genomics
Wenbin Shi   +5 more
doaj   +1 more source

35 Individuals With HUWE1‐Related Neurodevelopmental Disorder and Suggested Clinical Evaluations

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT HUWE1 (HECT, UBA, and WWE Domain Containing E3 Ubiquitin Protein Ligase1, OMIM 300697), located at Xp11.22, encodes a ubiquitin ligase that is highly conserved across species. Genetic variants in HUWE1 described in multiple independent studies cause X‐linked intellectual disability, including in the patients identified by Juberg, Marsidi, and ...
Mindy H. Li   +25 more
wiley   +1 more source

Maternal sleep quality during pregnancy and neonatal outcomes: A study from Riyadh, Saudi Arabia. [PDF]

open access: yesPLoS One
Almutairi WA   +5 more
europepmc   +1 more source

Cryohydrocytosis: When Cold Breaks the Membrane

open access: yes
American Journal of Hematology, EarlyView.
Athina Ntoumaziou   +5 more
wiley   +1 more source

Genomic Contributors to Congenital Diaphragmatic Hernia: Results of Exome Sequencing in 560 Probands and Cross Reference of Findings in an Independent Cohort

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT There is a strong genetic contribution to the etiology of congenital diaphragmatic hernia (CDH). This study evaluated genetic testing results and diagnostic yield for fetuses and children with CDH. This was a retrospective cohort study of exome sequencing (ES) performed at GeneDx for fetuses and children ≤ 18 years of age with CDH compared ...
Justin Blair   +9 more
wiley   +1 more source

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet   +10 more
wiley   +1 more source

Association between Neonatal Hypoglycemia and 30-Day Breastfeeding Outcomes among Gravidas with Type 2 Diabetes. [PDF]

open access: yesAm J Perinatol
Rogerson D   +15 more
europepmc   +1 more source

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