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1.
Renal anomalies and lymphedema distichiasis syndrome. A rare association?
Am J Med Genet A
; 173(8): 2251-2256, 2017 Aug.
Article
in English
| MEDLINE | ID: mdl-28544699
2.
Microform holoprosencephaly with bilateral congenital elbow dislocation; increasing the phenotypic spectrum of Steinfeld syndrome.
Am J Med Genet A
; 170(3): 754-9, 2016 Mar.
Article
in English
| MEDLINE | ID: mdl-26728615
3.
Should we offer prenatal testing for 17q12 microdeletion syndrome to all cases with prenatally diagnosed echogenic kidneys? Prenatal findings in two families with 17q12 microdeletion syndrome and review of the literature.
Prenat Diagn
; 35(13): 1336-41, 2015 Dec.
Article
in English
| MEDLINE | ID: mdl-26429400
4.
Identification and characterisation of a rare MTTP variant underlying hereditary non-alcoholic fatty liver disease.
JHEP Rep
; 5(8): 100764, 2023 Aug.
Article
in English
| MEDLINE | ID: mdl-37484212
5.
An approach to familial lymphoedema.
Clin Med (Lond)
; 17(6): 552-557, 2017 Dec.
Article
in English
| MEDLINE | ID: mdl-29196357
6.
Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations.
Eur J Hum Genet
; 22(7): 881-7, 2014 Jul.
Article
in English
| MEDLINE | ID: mdl-24281367
7.
14q22.3 Microdeletion encompassing OTX2 in a five-generation family with microphthalmia, pituitary abnormalities, and intellectual disability.
Ophthalmic Genet
; 37(3): 352-3, 2016 09.
Article
in English
| MEDLINE | ID: mdl-26860946
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