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1.
Biallelic variants in GTF3C5, a regulator of RNA polymerase III-mediated transcription, cause a multisystem developmental disorder.
Hum Genet
; 143(3): 437-453, 2024 Mar.
Article
in English
| MEDLINE | ID: mdl-38520561
2.
Leveling the field: Development of an asynchronous interactive module series for genetic counseling trainees on molecular testing and variant interpretation.
J Genet Couns
; 33(1): 151-155, 2024 02.
Article
in English
| MEDLINE | ID: mdl-38197609
3.
Nonlethal presentations of CYP26B1-related skeletal anomalies and multiple synostoses syndrome.
Am J Med Genet A
; 185(9): 2766-2775, 2021 09.
Article
in English
| MEDLINE | ID: mdl-34160123
4.
Mutations in COQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy.
J Med Genet
; 52(9): 627-35, 2015 Sep.
Article
in English
| MEDLINE | ID: mdl-26185144
5.
Utility of Genetic Testing for Confirmation of Abnormal Newborn Screening in Disorders of Long-Chain Fatty Acids: A Missed Case of Carnitine Palmitoyltransferase 1A (CPT1A) Deficiency.
Int J Neonatal Screen
; 3(2)2017 Jun.
Article
in English
| MEDLINE | ID: mdl-28748224
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