Results 131 to 140 of about 1,547 (171)

Case Report: Maribavir for refractory cytomegalovirus viremia after renal transplantation in a child with Schimke's immune-osseous dysplasia. [PDF]

Front Immunol
Huang JS, Wang HK, Rong LP, Jiang XY, Liu LS, Huang LY, Zhang N, Yue ZH.   +7 more
europepmc   +1 more source

An Intronic Variant in CDKN1C Gene Causing IMAGe Syndrome in an Iranian Girl. [PDF]

Mol Genet Genomic Med
Dalili S, Hoseini Nouri SA, Sharifi A, Bayat R, Talebi S, Savad S, Medghalchi N, Rabbani B, Mahdieh N.   +8 more
europepmc   +1 more source

Cantu syndrome-associated SUR2[H60Y] mutation confers selective gain of function on Kir6.1 ATP-sensitive potassium channels. [PDF]

J Biol Chem
Gao J, Thompson ET, Nichols CG.
europepmc   +1 more source

[Microcephalic osteodysplastic primordial dwarfism type II (MOPD II): clinical case]. [PDF]

Probl Endokrinol (Mosk)
Makretskaya NA, Kalinchenko NY, Tiulpakov AN.   +2 more
europepmc   +1 more source

A nonsense mutation in the PRKG2 gene in dalmatian dogs with chondrodysplasia. [PDF]

PLoS One
Mäkeläinen S, Ekman S, Hytönen MK, Lohi H, Kyöstilä K, Simon T, Andersson G, Hedhammar Å, Hansson K, Bergström TF.   +9 more
europepmc   +1 more source

Ontology- and LLM-based data harmonization for federated learning in healthcare. [PDF]

Front Digit Health
Kokash N, Wang L, Gillespie TH, Belloum ASZ, Grosso P, Quinney S, Li L, de Bono B.   +7 more
europepmc   +1 more source

Dyggve-Melchior-Clausen Syndrome in Ecuador: Expanding Knowledge on a Rare Genetic Disorder. [PDF]

Genes (Basel)
Reyes-Silva C, Gallardo-Vizuete J, Guzmán-Acán J, Jaramillo-Koupermann G, Cabrera-Andrade A.   +4 more
europepmc   +1 more source

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Prevalence of lethal osteochondrodysplasias in Denmark

American Journal of Medical Genetics Part A, 1989
AbstractThe point prevalence at birth of lethal osteochondrodysplasias in a subregion of Denmark was estimated by a study of all children born January 1970 through December 1983. Two cases of thanatophoric dysplasia, one case of thanatophoric dysplasia with cloverleaf skull, two cases of micromelic bone dysplasia with cloverleaf skull, two cases of ...
P E Andersen
exaly   +3 more sources

Osteochondrodysplasias

Yasemin Alanay
exaly   +4 more sources

International nomenclature and classification of the osteochondrodysplasias (1997)

Pediatric Radiology, 1998
Lachman R S
exaly   +5 more sources