Results 151 to 160 of about 13,759 (208)

The Pena-Shokeir Syndrome in a Twin Pregnancy: A Rare Case Report. [PDF]

Clin Med Insights Case Rep
El Gazzane S, Saghir S, Bahous M, Sellouti M, Ayad A, Abilkassem R.   +5 more
europepmc   +1 more source

Human Phenotype Ontology Annotations for Rare Congenital Conditions: Application to Arthrogryposis Multiplex Congenita. [PDF]

Am J Med Genet A
Nematollahi S, Hamdy RC, van Bosse H, Li J, Blanshay-Goldberg D, de Vries JIP, Dieterich K, Filges I, Bedard T, Haendel M, Torres MM, Robinson PN, Dahan-Oliel N.   +12 more
europepmc   +1 more source

A novel gene splice-site mutation causes severe congenital myopathy with arthrogryposis and dysmorphic features [PDF]

core   +1 more source

Novel heterozygous mutation in MYH3 causes contractures, pterygia, and spondylocarpostarsal fusion syndrome 1: A case report. [PDF]

Medicine (Baltimore)
Zhu X, Zhu X, Yao Q.
europepmc   +1 more source

Parental Goals of Care for Children With Rare Diseases: A Content Analysis of Pediatric Advance Care Planning Conversations. [PDF]

Am J Hosp Palliat Care
Younge T, Moore H, Thompkins JD, Lyon ME.   +3 more
europepmc   +1 more source

Genomic exploration of pediatric neurological disorders: a case series. [PDF]

J Med Case Rep
Tayade N, Manoj G, Kewat A, A AK, Devulapalli R, Kumar S, Polipalli SK, Nair BG, Bandapalli OR, Suravajhala P.   +9 more
europepmc   +1 more source

Identification of novel RIPK4 variants in a Chinese patient with Arthrogryposis Multiplex Congenita (AMC). [PDF]

Ital J Pediatr
Lu YL, Liu MW, Jin JY, Pan D.
europepmc   +1 more source

VIPAS39 related arthrogryposis-renal dysfunction-cholestasis syndrome-case report and systematic review. [PDF]

Orphanet J Rare Dis
Kafol J, Gnidovec Strazisar B, Drole Torkar A, Homan M, Bertok S, Mlinaric M, Sikonja J, Kovač J, Perkovic Benedik M, Kersnik Levart T, Zerjav Tansek M, Praprotnik M, Battelino T, Debeljak M, Groselj U.   +14 more
europepmc   +1 more source

Abortions and Congenital Malformations in Small Ruminants Associated with Toxic Plant Consumption in the Brazilian Semi-Arid Region. [PDF]

Animals (Basel)
Rocha VC, Santos Filho GJ, de Souza MF, Assis EB, da Silva MA, Sousa MS, Sousa ESS, Simões SVD, Lucena RB.   +8 more
europepmc   +1 more source

Transcriptional Changes Associated with Amyoplasia. [PDF]

Int J Mol Sci
Komissarov AE, Agranovich OE, Kuchinskaia IA, Tkacheva IV, Bolshakova OI, Latypova EM, Batkin SF, Sarantseva SV.   +7 more
europepmc   +1 more source