Results 291 to 300 of about 54,157 (345)

Genetic blood disorder status awareness and factors influencing willingness or reluctance to undergo premarital screening among young adults in Ahafo Region, Ghana: a cross-sectional survey. [PDF]

J Health Popul Nutr
Sarpong ML, Tetteh RJ, Kuupiel D.
europepmc   +1 more source

First review of chronic granulomatous disease in Palestine: clinical and genetic characteristics. [PDF]

Front Immunol
Thawabteh FA, Abu Rmilah S, Siaj A, Abu Khdair R, Adwan R.   +4 more
europepmc   +1 more source

Co-occurring DMD, GJA1, and novel FYCO1 variants in a proband from a consanguineous oculodentodigital dysplasia family: a rare multi-locus case report. [PDF]

Front Genet
Abhishek K, Mohanta NK, John J, Panda S, Satapathy AK, Rattan R, Ramchander PV.   +6 more
europepmc   +1 more source

Biallelic Pathogenic Variants in IL2RA Cause Neonatal-Onset Monogenic Autoimmune Diabetes. [PDF]

Diabetes
Bonfield G, Russ-Silsby J, Ramchand S, Luckett AM, Wakeling MN, Kulkarni A, Nagesh VS, Deeb A, Ravikumar KG, Nguyen PTK, Hattersley AT, Oram RA, Flanagan SE, De Franco E, Johnson MB, EXE-T1D Consortium* .   +15 more
europepmc   +1 more source

Children With Diabetes and At Least One Non-Autoimmune Feature Should Be Considered for Monogenic Diabetes Testing.

J Clin Endocrinol Metab
Myers R, Yildiz M, Nuri Ozbek M, Manzoor J, Ibrahim M, Yajnik C, Atar M, Şiklar Z, Acar S, Globa E, Magdy Omar O, Demirbilek H, Hassan S, Demir K, Hanif M, Guran T, Hatipoglu N, Koçyiğit C, Colclough K, Houghton J, Hattersley A, Van Heugten R, Patel K, Monogenic Diabetes Consortium.   +23 more
europepmc   +1 more source

Consanguinity and Founder Effect for Gaucher disease mutation G3777S in a population from Tabuleiro do Norte, Northestern - Brazil

, 2015
Rigoberto Gadelha Chaves
openalex   +1 more source

Consanguinity, Sibling Relationships, and the Default Rules of Inheritance Law: Reshaping Half-Blood Statutes to Reflect the Evolving Family

, 2016
Ralph C. Brashier
openalex   +1 more source

Case of Consanguinity.

, 1923
Williams Ec
openalex   +1 more source

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Consanguinity and Autism

Current Psychiatry Reports, 2020
Consanguinity can increase the risk for autosomal recessive conditions, along with autism spectrum disorder (ASD). Rarely outside of the genetics community is this discussed. Understanding its impact on the development of ASD and increasing awareness for physicians is important.ASD is a polygenic multifactorial disorder associated with morbidity and ...
Nikita, Roy, Mohammad, Ghaziuddin, Sarah, Mohiuddin   +2 more
openaire   +2 more sources