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1.
O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum.
J Med Genet
; 59(7): 697-705, 2022 07.
Article
in English
| MEDLINE | ID: mdl-34321323
2.
Underrepresentation of Phenotypic Variability of 16p13.11 Microduplication Syndrome Assessed With an Online Self-Phenotyping Tool (Phenotypr): Cohort Study.
J Med Internet Res
; 23(3): e21023, 2021 03 16.
Article
in English
| MEDLINE | ID: mdl-33724192
3.
DNA Hypomethylation in Intragenic and Intergenic Enhancer Chromatin of Muscle-Specific Genes Usually Correlates with their Expression.
Yale J Biol Med
; 89(4): 441-455, 2016 12.
Article
in English
| MEDLINE | ID: mdl-28018137
4.
Phenotypic Spectrum of DNM2-Related Centronuclear Myopathy.
Neurol Genet
; 8(6): e200027, 2022 Dec.
Article
in English
| MEDLINE | ID: mdl-36324371
5.
Infant mortality: the contribution of genetic disorders.
J Perinatol
; 39(12): 1611-1619, 2019 12.
Article
in English
| MEDLINE | ID: mdl-31395954
6.
Hydroxychloroquine-induced agranulocytosis in a patient with long-term rheumatoid arthritis.
Eur J Rheumatol
; 3(2): 91-92, 2016 Jun.
Article
in English
| MEDLINE | ID: mdl-27708979
7.
SGLT inhibition and euglycaemic diabetic ketoacidosis.
Lancet Diabetes Endocrinol
; 3(7): 503-4, 2015 Jul.
Article
in English
| MEDLINE | ID: mdl-26025388
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