Results 131 to 140 of about 3,759 (221)

Cardioacrofacial dysplasia 1: a case report and literature review. [PDF]

Transl Pediatr
Liang C, Wang Z, Bai G.
europepmc   +1 more source

Accidental finding of Sturge-Weber syndrome presented to the emergency department with persistent seizures: an unusual case report from Somalia. [PDF]

Ann Med Surg (Lond)
Iyow SN, Ibrahim IG, Turfan S, Osman UMA, Ibrahim MA, Mohamud MFY.   +5 more
europepmc   +1 more source

Unveiling alpha-mannosidosis in Iraqi children: A series of clinically and genetically characterized cases with novel <i>MAN2B1</i> variant. [PDF]

Mol Genet Metab Rep
Al Tai MR, Saadi NW, Alothman MS, Ahmed IA, Arif HS, Abdulwahhab SB.   +5 more
europepmc   +1 more source

Craniofacial Surgery in Children With Down Syndrome: A 6-decade Scoping Review. [PDF]

Plast Reconstr Surg Glob Open
Warner-Levy J, Chan HS, Wilkins L, Chorghade O, Rezagholikhani Y, Steele AM, Balumuka DD.   +6 more
europepmc   +1 more source

[Congenital familial craniofacial dysostosis].

Vestnik rentgenologii i radiologii, 2000
R S, LEVIN, F F, EFIMOV
openaire   +1 more source

Pleiotropic genes linking congenital hypogonadotropic hypogonadism and cleft lip/palate: evidence from a genomic CHH cohort study. [PDF]

Eur J Hum Genet
Correa FA, Habibi I, Zhai J, Adamo M, Wang Y, Boizot A, Zouaghi Y, Rauch A, Pekic S, Quinton R, Bonomi M, Cangiano B, Dhillo WS, Fluck CE, Nemeth A, Bouloux PM, Ferrara JM, Pignatelli D, Halász Z, Perdices-Lopez C, Messina A, Niederländer NJ, Santoni F, Acierno JS, Pitteloud N.   +24 more
europepmc   +1 more source

Imaging of Treacher Collins syndrome: A case report. [PDF]

Radiol Case Rep
Khatiwada A, Thapa B, Pandit R, Bhandari D, Kc S.   +4 more
europepmc   +1 more source

Exploring skeletal disorders in cattle and sheep: a WGS-based framework for diagnosis and classification. [PDF]

Genet Sel Evol
Jacinto J, Letko A, Gentile A, Otter A, Floyd T, Collins R, Richey M, Carty H, Scholes S, Jones A, Fuller H, Häfliger IM, Strugnell B, Studer E, Benazzi C, Bolcato M, Starič J, Diana A, Weber J, Freick M, Lühken G, Tammen I, Kraft DCE, Lindgren CM, Sickinger M, Soto S, O'Rourke BA, Agerholm JS, Drögemüller C.   +28 more
europepmc   +1 more source

The Anesthetic Management of a Pediatric Patient for Drug-induced Sleep Endoscopy (DISE): A Case Report. [PDF]

Acta Med Philipp
Uy M, Villa EK.
europepmc   +1 more source