Results 121 to 130 of about 27,083 (210)

Epidemiological and clinical profile of sickle cell disease in a series of Moroccan children. [PDF]

J Community Genet
Arbai K, Alaoui Ismaili FZ, Zian Z, El Bali M, Mansour C, Lhoussni A, Belahsen S, Ghailani Nourouti N, Barakat A, Bennani Mechita M.   +9 more
europepmc   +1 more source

Associations between red reflex abnormality, consanguinity and intensive care hospitalization of newborns in Turkey

, 2018
Zeynep Özkurt, Selahattin Balsak, Yusuf Ozan YILDIRIM, Harun Yüksel, İhsan Çaça, Ihsan Caca   +5 more
openalex   +1 more source

Clinical and molecular spectrum of mucopolysaccharidosis IVA in Iraqi children: Allele-specific genotype-phenotype trends and novel GALNS variants. [PDF]

Mol Genet Metab Rep
Wahhab SBA, Thejeal RF.
europepmc   +1 more source

A Diagnosis Hidden in Plain Sight: A Rare Presentation of Isolated Dysarthria in Wilson's Disease-A Case Report. [PDF]

Clin Case Rep
Reddy K, Singhvi M, Netto AB, Thejus B, Souza LD, Shivananda DB, Nair SV, Rai D.   +7 more
europepmc   +1 more source

<b>Parental Consanguinity, Spousal Relatedness, and Familial Aggregation as Modifiers of PCOS Severity: Evidence From a 500-Case Clinic Cohort in Pakistan</b>

Saima Ashraf, Adeel Khalid, A Nisar, Sahar Imnan, Saba Mumtaz, Asad Shabbir, Ayesha Ijaz   +6 more
openalex   +1 more source

Towards Next-Generation Sequencing as a First-Tier Diagnostic Test for Fructose-1,6-Bisphosphatase Deficiency. [PDF]

Metabolites
Yazbeck N, Barhoumi A, Karam PE.
europepmc   +1 more source

Common Ancestry from Southern Italy: Two Families with Dilated Cardiomyopathy Share the Same Homozygous Loss-of-Function Variant in <i>NRAP</i>. [PDF]

Genes (Basel)
Onore ME, Caiazza M, Mio C, Scarano G, Di Letto P, Rahman SI, Monda E, Amarelli C, Borrelli RN, Faletra F, Nigro V, Limongelli G, Piluso G.   +12 more
europepmc   +1 more source

A comprehensive survey of congenital malformations in three governorates of Southern Iraq (Basrah, Misan, and Thi Qar), 2020-2023. [PDF]

BMC Pregnancy Childbirth
Al-Ali AAA, Al-Saray ST, Honi DG, Szathmary L.   +3 more
europepmc   +1 more source

Consanguineous marriages [PDF]

Notes and Queries
openaire   +2 more sources