about
Leigh syndrome in a girl with a novel DLD mutation causing E3 deficiencyHuman HOX gene disorders.Analysis of de novo HOXA13 polyalanine expansions supports replication slippage without repair in their generation.Maternal intrachromosomal insertional translocation leads to recurrent 1q21.3q23.3 deletion in two siblings.Multiple congenital anomalies and developmental delay in a boy associated with a de novo 16p13.3 deletionPatient preferences for prenatal testing and termination of pregnancy for congenital anomalies and genetic diseases in EthiopiaThe CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis
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Q30584522-CCFE49F8-BFDF-4EC6-82DD-51AEA38ACF58Q38163195-639BB884-0C01-49F2-B2F9-F628A320C555Q53114364-E38721F4-0F1D-44F2-A4E6-2A21B4EEFBA7Q53150475-88590432-C38B-4079-B6CB-8888375CC7A5Q56329838-E97F64B9-DBBE-4504-8F27-19D408EA52A1Q91819507-E9F61D44-C0F6-4C77-BE9C-AF8E0BD61BFDQ92461457-7A098029-AF64-4B25-8E2C-E55733F8390B
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description
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Shane C Quinonez
@nl
Shane C Quinonez
@sl
Shane C. Quinonez
@en
Shane C. Quinonez
@es
type
label
Shane C Quinonez
@nl
Shane C Quinonez
@sl
Shane C. Quinonez
@en
Shane C. Quinonez
@es
prefLabel
Shane C Quinonez
@nl
Shane C Quinonez
@sl
Shane C. Quinonez
@en
Shane C. Quinonez
@es
P106
P1153
49962151300
P31
P496
0000-0002-8254-0216