Search details
1.
Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder.
Genet Med
; 23(2): 384-395, 2021 02.
Article
in English
| MEDLINE | ID: mdl-33173220
2.
Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature.
Genet Med
; 21(9): 2036-2042, 2019 09.
Article
in English
| MEDLINE | ID: mdl-30739909
3.
Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machinery.
Hum Mutat
; 39(8): 1126-1138, 2018 08.
Article
in English
| MEDLINE | ID: mdl-29851191
4.
Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: five novel mutations and review of the literature.
Am J Med Genet A
; 164A(11): 2879-86, 2014 Nov.
Article
in English
| MEDLINE | ID: mdl-25115524
5.
Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome.
Nat Genet
; 53(7): 1006-1021, 2021 07.
Article
in English
| MEDLINE | ID: mdl-34211179
6.
Genotype-phenotype correlations in X-linked myotubular myopathy.
Neuromuscul Disord
; 12(10): 939-46, 2002 Dec.
Article
in English
| MEDLINE | ID: mdl-12467749
Results
1 -
6
de 6
1
Next >
>>