Results 181 to 190 of about 256,394 (202)

Consensus Guidelines for Diagnosis and Management of Pyruvate Dehydrogenase Complex Deficiency

Journal of Inherited Metabolic Disease, Volume 49, Issue 6, November 2026.
ABSTRACT Primary pyruvate dehydrogenase complex deficiency (PDCD) comprises a group of monogenic disorders caused by pathogenic variants in genes encoding subunits of, or regulatory components affecting, the pyruvate dehydrogenase complex. The clinical phenotype spans a broad continuum, ranging from early onset congenital lactic acidosis to infantile ...
Nandaki Keshavan, Julia Neugebauer, Marcello Bellusci, Enrico Bertini, Garry Brown, Niklas Darin, Suzanne DeBrosse, Lucy Drexler, Stefan Drexler, Gregory M. Enns, Rebecca D. Ganetzky, Kelly Gilbert, Austin Larson, Rebecca Legi, April N. Lehman, Camile Newby, Manuel Schiff, Rachel Skeath, Peter W. Stacpoole, Sarah Thompson, Emma Watt, Saskia B. Wortmann, Jirair K. Bedoyan, Shamima Rahman   +23 more
wiley   +1 more source

Pediatric Mediastinal Gray Zone Lymphoma With Germline TET2 Heterozygous Variant

Pediatric Blood &Cancer, Volume 73, Issue 11, November 2026.
Matthew R. Schuelke, Julia Wang, Haley Newman, Evelyn Kurpiewski, Anne Reilly, Susan R. Rheingold, Gerald Wertheim, Moe Takeda, Daniel J. Zheng, Kaitlin Devine   +9 more
wiley   +1 more source

Autosomal recessive familial exudative vitreoretinopathy: evidence for genetic heterogeneity

Clinical Genetics, 1998
Two unrelated families with familial exudative vitreoretinopathy (FEVR) show apparent autosomal recessive inheritance rather than the previously reported autosomal dominant or X-linked recessive mode of inheritance.
Francesca Simonelli, Francesco Testa, Alfredo Ciccodicola   +2 more
exaly   +4 more sources

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Autosomal recessive inheritance of juvenile periodontitis: test of a hypothesis

Clinical Genetics, 1984
H R Nevanlinna, Leena Saxén
exaly  

Uncomplicated familial hypospadias: Evidence for autosomal recessive inheritance

American Journal of Medical Genetics, Part A, 1985
Moshe Frydman, Herman A Cohen
exaly  

Choanal atresia: Evidence for autosomal recessive inheritance

American Journal of Medical Genetics, Part A, 1992
Ruth Gershoni-Baruch
exaly  

Dandy-Walker malformation with postaxial polydactyly: Further evidence for autosomal recessive inheritance

American Journal of Medical Genetics, Part A, 1999
Denise Pontes Cavalcanti
exaly  

Autosomal-recessive inheritance of benign recurrent intrahepatic cholestasis

American Journal of Medical Genetics, Part A, 1995
Frits A Beemer, F A Beemer
exaly  

Bilateral tibial agenesis with ectrodactyly (OMIM 119100): Further evidence for autosomal recessive inheritance

American Journal of Medical Genetics, Part A, 2001
Koenraad Devriendt, Philippe Moerman, I Witters   +2 more
exaly  

Rhombencephalosynapsis with facial anomalies and probable autosomal recessive inheritance: a case report

Clinical Genetics, 1997
Maja Di Rocco, Marta Romanengo, Paolo Tortori-Donati   +2 more
exaly