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1.
A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature.
Am J Med Genet A
; 191(5): 1227-1239, 2023 05.
Article
in English
| MEDLINE | ID: mdl-36751037
2.
Mutations in SEPT9 cause hereditary neuralgic amyotrophy.
Nat Genet
; 37(10): 1044-6, 2005 Oct.
Article
in English
| MEDLINE | ID: mdl-16186812
3.
More severe epilepsy and cognitive impairment in the offspring of a mother with mosaicism for the ring 20 chromosome.
Epilepsy Res
; 73(1): 122-8, 2007 Jan.
Article
in English
| MEDLINE | ID: mdl-17079116
4.
Estrogen-related receptor gamma implicated in a phenotype including hearing loss and mild developmental delay.
Eur J Hum Genet
; 24(11): 1622-1626, 2016 11.
Article
in English
| MEDLINE | ID: mdl-27381092
5.
Rearrangements in the flanking sequences of the triplet repeat of the FMR1 gene give clues to the mechanisms involved in repeat instability in fragile X.
DNA Repair (Amst)
; 7(5): 684-5, 2008 May 03.
Article
in English
| MEDLINE | ID: mdl-18337192
6.
[Genetic fever--Internet consultation, mutation in the envelope]. / Geneettinen kuume--konsultaatio verkossa, mutaatio kirjekuoressa.
Duodecim
; 119(16): 1567-71, 2003.
Article
in Fi
| MEDLINE | ID: mdl-14535030
7.
Chromosome 2q terminal deletion: report of 6 new patients and review of phenotype-breakpoint correlations in 66 individuals.
Am J Med Genet A
; 130A(4): 331-9, 2004 Nov 01.
Article
in English
| MEDLINE | ID: mdl-15386475
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