Results 131 to 140 of about 27,083 (210)

Genetic etiology of inherited kidney diseases in egyptian patients: next generation sequencing identifies six novel variants. [PDF]

Mol Cell Pediatr
Elaraby NM, Metwally AM, Sayed SM, Ashaat NA, Gamal M, Hussen DF, Abuelela S, Ramadan A, Kobesiy MM, Shaker MM, Elgebaly H, Elnady HG, Gammal ME, Ashaat EA.   +13 more
europepmc   +1 more source

Editorial: Consanguinity and rare genetic neurological diseases

Frontiers in Neurology
Suzanne Lesage, Mustafa A. Salih
doaj   +1 more source

Acid β-glucosidase (GBA1) gene mutational spectrum and clinical phenotypes in patients with gaucher disease: seven novel mutations in a multicenter retrospective cohort study from upper Egypt. [PDF]

Mol Cell Pediatr
Youssef MAM, Elsayed SM, Elsayh KI, Taha SA, Abdelmotogaly HSM, Embaby MM.   +5 more
europepmc   +1 more source

<i>RNU4-2</i> monoallelic variants as a leading cause of syndromic neurodevelopmental disorder, including in patients with parental consanguinity. [PDF]

J Med Genet
Bertoli-Avella AM, Ganoza CA, Ferreira M, Najafi M, Polla DL, Kandaswamy K, Tripolszki K, Bauer P, Pinto Basto J.   +8 more
europepmc   +1 more source

Consanguinity.

Bulletin of the World Health Organization, 2010
openaire   +1 more source

Bruton's Agammaglobulinemia: Case Series and Literature Review From King Fahad Central Hospital, Jizan, Saudi Arabia. [PDF]

Am J Case Rep
Shamakhi A, Dhayhi N, Matabi S, Maashi M, Hamdi AD, Ali B, Hazazi F, Alhamoud AH.   +7 more
europepmc   +1 more source

StAR Protein Deficiency in Clinical Practice: A Case Series From Saudi Arabia. [PDF]

Case Rep Endocrinol
Alabduljabbar A, Farooq D, Abid S, Aljazaeri S, Alhuthil R, Alsagheir A.   +5 more
europepmc   +1 more source

A Phenotypically Normal Homozygous Balanced Reciprocal Translocation Carrier: Report of an Extremely Rare Genetic Occurrence. [PDF]

Cureus
Thirupathy M, Shetty M, Prakash P.
europepmc   +1 more source

Single-centre comparison of non-familial, familial and monogenic lupus. [PDF]

Rheumatology (Oxford)
Alshekaili J, Al Lawati BSH, Althuhli Z, Al-Azri W, Al-Maawali A, Al-Rashdi S, Al-Mamari F, Al-Kindi M, Al Balushi H, Al-Rawahi M, Al-Khabori M, Cook MC.   +11 more
europepmc   +1 more source

Integrating genetics into medical curriculum: evaluating a dedicated clinical genetics module at Dow university of health sciences. [PDF]

BMC Med Educ
Hanif MI, Bari MF, Hussain M, Khan N, Hossain N, Quraishy MS, Kirmani S.   +6 more
europepmc   +1 more source