Results 251 to 260 of about 54,157 (345)

Etiological Factors of Orofacial Clefts in a Hospital-Based Population: A Descriptive Analytical Study. [PDF]

Cureus
Naffizuddin M, Ashok C, Gunukula S, Sarma R, Sujanamulk B, Takkella BK, Ram Sunil C, Sujana V, Kumar A.   +8 more
europepmc   +1 more source

Lennox–Gastaut syndrome in a patient with biallelic TELO2 variants

Epileptic Disorders, EarlyView.
Melissa Odabassian, Kenneth A. Myers
wiley   +1 more source

Inbreeding and deleterious variation in South Asian populations. [PDF]

Sci Rep
Wall JD, Rodrigues MF.
europepmc   +1 more source

Consanguinity and Inbreeding Coefficient F in Aligarh city, India: A Cross Sectional Study

, 2019
Saima Yunus Khan
openalex   +1 more source

De novo TANC2 stop‐loss variant associated with developmental impairment and drug‐resistant epilepsy

Epileptic Disorders, EarlyView.
Matthew A. Hintermayer, Kenneth A. Myers
wiley   +1 more source

Early Acitretin Therapy in a Patient With Harlequin Ichthyosis

JEADV Clinical Practice, EarlyView.
ABSTRACT Harlequin ichthyosis (HI) is a rare, severe congenital disorder of keratinization caused by pathogenic variants in the ABCA12 gene resulting in thick, hyperkeratotic plates, deep fissures, and characteristic facial and limb abnormalities.
Orasa Sukmark, Parith Wongkittichote, Sanchawan Wittayakornrerk   +2 more
wiley   +1 more source

Neonatal Diabetes Mellitus Due to Homozygous ZNF808 Mutation Associated With Skeletal Anomalies: A Novel Presentation of Pancreatic Agenesis-3. [PDF]

Cureus
Alquraishi AS, Saad MM, Rayees S.
europepmc   +1 more source

The Bazaar as a Model for Knowledge Work

Knowledge and Process Management, EarlyView.
ABSTRACT This paper presents fieldwork that extends existing metaphors of knowledge work as a process shaped by hierarchical or market forces. A qualitative, ethnographic study of six knowledge‐intensive businesses in two countries identifies striking parallels with the Middle Eastern bazaar in contrast to Western impersonal markets and hierarchies. We
Reed Elliot Nelson, Andrew B. Hargadon, José Osvaldo De Sordi   +2 more
wiley   +1 more source

Burden of congenital anomalies in Faisalabad, Pakistan: Consanguinity, ethnic disparities and public health implications. [PDF]

Pak J Med Sci
Sajid S, Batool Z, Rashid A, Naz S, Malik S.   +4 more
europepmc   +1 more source

Comparative analysis of exon 10 and non-exon 10 variants in children with familial mediterranean fever: a retrospective cohort study. [PDF]

Eur J Pediatr
Menentoğlu B, Arık SD, Prencuva Akyürek P, Akgün Ö, Aktay Ayaz N.   +4 more
europepmc   +1 more source