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1.
Fine Breakpoint Mapping by Genome Sequencing Reveals the First Large X Inversion Disrupting the NHS Gene in a Patient with Syndromic Cataracts.
Int J Mol Sci
; 22(23)2021 Nov 24.
Article
in English
| MEDLINE | ID: mdl-34884523
2.
MECP2 Duplications in Symptomatic Females: Report on 3 Patients Showing the Broad Phenotypic Spectrum.
Child Neurol Open
; 3: 2329048X16630673, 2016.
Article
in English
| MEDLINE | ID: mdl-28503606
3.
Two cases of deletion 2q37 associated with segregation of an unbalanced translocation 2;21: choanal atresia leading to misdiagnosis of CHARGE syndrome.
Eur J Endocrinol
; 160(4): 711-7, 2009 Apr.
Article
in English
| MEDLINE | ID: mdl-19332529
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