Results 61 to 70 of about 227 (76)

New and future perspectives in familial Mediterranean fever and other autoinflammatory diseases. [PDF]

Arch Rheumatol
Çam V, Ercan Emreol H, Ozen S.
europepmc   +1 more source

Identifying key factors for recurrence of genetic disorder: insights from Indian families with multiple affected children. [PDF]

J Community Genet
Menon K, Agarwal V.
europepmc   +1 more source

Genetic Findings in Short Turkish Children Born to Consanguineous Parents.

Horm Res Paediatr
Joustra SD, Joustra SD, Isik E, Wit JM, Catli G, Anik A, Haliloglu B, Kandemir N, Ozsu E, Hendriks YMC, de Bruin C, Kant SG, Campos-Barros A, Challis RC, Parry D, Harley ME, Jackson A, Losekoot M, van Duyvenvoorde HA.   +18 more
europepmc   +1 more source

Macrocephaly and Finger Changes: A Narrative Review. [PDF]

Int J Mol Sci
Lazea C, Vulturar R, Chiș A, Encica S, Horvat M, Belizna C, Damian LO.   +6 more
europepmc   +1 more source

Paediatric Congenital Enteropathies: Clinical and Histological Review. [PDF]

Diagnostics (Basel)
Arienzo F, Giovannoni I, Diamanti A, Trovato CM, De Angelis P, Imondi C, Alaggio R, Francalanci P.   +7 more
europepmc   +1 more source

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Expanding the clinical spectrum in trichohepatoenteric syndrome

American Journal of Medical Genetics, Part A, 2021
Sevil Dorum, Özlem Gorukmez
exaly  

Ski3/TTC37 deficiency associated with trichohepatoenteric syndrome causes mitochondrial dysfunction in Drosophila

FEBS Letters, 2020
Kohei Ohnuma, Yoshihito Kishita, Masakazu Kohda   +2 more
exaly  

A New Variant Mutation in SKIV2L Gene in Case of Trichohepatoenteric Syndrome

Pediatric Reports, 2020
Saeed Alzahrani, Mesbah Alshumrani
exaly  

Novel mutations in SKIV2L and TTC37 genes in Malaysian children with trichohepatoenteric syndrome

Gene, 2016
Way Seah Lee, Ruey Terng Ng, Boon Pin Kee   +2 more
exaly