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1.
Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders.
Nat Genet
; 39(1): 25-7, 2007 Jan.
Article
in English
| MEDLINE | ID: mdl-17173049
2.
Double deletion of a chromosome 21 inserted in a chromosome 22 in an azoospermic patient.
Clin Case Rep
; 3(9): 757-61, 2015 Sep.
Article
in English
| MEDLINE | ID: mdl-26401282
3.
Cytogenetic investigations of infertile men with low sperm counts: a 25-year experience.
J Androl
; 23(1): 18-22; discussion 44-5, 2002.
Article
in English
| MEDLINE | ID: mdl-11780918
4.
Genotype-phenotype correlations in Charcot-Marie-Tooth disease type 2 caused by mitofusin 2 mutations.
Arch Neurol
; 66(12): 1511-6, 2009 Dec.
Article
in English
| MEDLINE | ID: mdl-20008656
5.
Subtelomeric 6p deletion: clinical, FISH, and array CGH characterization of two cases.
Am J Med Genet A
; 132A(2): 175-80, 2005 Jan 15.
Article
in English
| MEDLINE | ID: mdl-15578619
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