Results 81 to 90 of about 698 (166)

A rare case of limb deficiency syndrome: Gollop WolfGang syndrome. [PDF]

Radiol Case Rep, 2021
Hapani R, Shastri M.
europepmc   +1 more source

Genetic Diseases of Fucosylation: Insights from Model Organisms. [PDF]

Genes (Basel)
Ameen MT, French CR.
europepmc   +1 more source

A Novel Homozygous Nonsense Variant in the DYM Underlies Dyggve-Melchior-Clausen Syndrome in Large Consanguineous Family. [PDF]

Genes (Basel), 2023
Bakar A, Shams S, Bibi N, Ullah A, Ahmad W, Jelani M, Muthaffar OY, Abdulkareem AA, Abujamel TS, Haque A, Naseer MI, Khan B.   +11 more
europepmc   +1 more source

Adams-Oliver Syndrome Type 3: A Case Report of Concurrent RBPJ, CACNA1A, and Double-Heterozygous MTHFR Variants. [PDF]

Diagnostics (Basel)
Damian GC, Belengeanu V, Popescu C, Marian D, Popovici RA, Cojocariu C.   +5 more
europepmc   +1 more source

Cell Trafficking Disorders Play an Important Role in the Pathogenesis of Skeletal Dysplasias. [PDF]

Turk Arch Pediatr
Tüysüz B.
europepmc   +1 more source

Síndrome de Goldenhar: relato de um caso com discordância em gêmeas monozigóticas [PDF]

Cristina H. F. Ferreira, Débora Gusmão Melo, Leonardo Lima Verona, Lucimara P. Pavarina, Nicholas Godoy Canazza Damian   +4 more
core   +1 more source

Modified criteria for identifying elevated bone mass. [PDF]

Osteoporos Int
Chen J, Cao L, Xu C, Lu F, Zhang L, Xu A, Chen Y, Tung TH, Hong D.   +8 more
europepmc   +1 more source

MAGIS syndrome: phenotypes, pathogenesis, and treatment. [PDF]

J Hum Immun
Lamborn IT, Jing H, Chattopadhyay E, Ham H, Zhang Y, Su HC.   +5 more
europepmc   +1 more source

A whole-genome scan for 24-hour respiration rate: a major locus at 10q26 influences respiration during sleep. [PDF]

Beem, A.L., Berg, M., Boomsma, D.I., Geus, J. de, Kupper, N., Posthuma, D., Slagboom, P.E., Willemsen, G.   +7 more
core   +1 more source

Cartilage-hair hypoplasia [PDF]

, 1969
Vogel, Kenneth A.
core   +1 more source