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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.
The D409H variant in GBA1: Challenges in predicting the Gaucher phenotype in the newborn screening era.
Am J Med Genet A
; 191(7): 1783-1791, 2023 07.
Article
in English
| MEDLINE | ID: mdl-37042183
3.
Use of dexamethasone in idiopathic, acute pediatric rhabdomyolysis.
Am J Med Genet A
; 185(2): 500-507, 2021 02.
Article
in English
| MEDLINE | ID: mdl-33300687
4.
Enlarged parietal foramina: a review of genetics, prognosis, radiology, and treatment.
Childs Nerv Syst
; 29(4): 543-7, 2013 Apr.
Article
in English
| MEDLINE | ID: mdl-23207976
5.
Collaborative efforts to improve genetic testing in the neonatal intensive care unit.
J Perinatol
; 43(12): 1500-1505, 2023 12.
Article
in English
| MEDLINE | ID: mdl-37914812
6.
Beyond Trinucleotide Repeat Expansion in Fragile X Syndrome: Rare Coding and Noncoding Variants in FMR1 and Associated Phenotypes.
Genes (Basel)
; 12(11)2021 10 22.
Article
in English
| MEDLINE | ID: mdl-34828275
7.
Clinical characteristics of individual organ system disease in non-motile ciliopathies.
Transl Sci Rare Dis
; 4(1-2): 1-23, 2019 Jul 04.
Article
in English
| MEDLINE | ID: mdl-31763176
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