about
Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant.Complex segmental duplications mediate a recurrent dup(X)(p11.22-p11.23) associated with mental retardation, speech delay, and EEG anomalies in males and females.Increased FGF3 and FGF4 gene dosage is a risk factor for craniosynostosis.Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.Skewed X-inactivation in a family with mental retardation and PQBP1 gene mutation.Recurrent duplications of 17q12 associated with variable phenotypes.Complex Segmental Duplications Mediate a Recurrent dup(X)(p11.22-p11.23) Associated with Mental Retardation, Speech Delay, and EEG Anomalies in Males and FemalesDefinition of minimal duplicated region encompassing theXIAPandSTAG2genes in the Xq25 microduplication syndromeIdentification of Novel Mutations in Patients with Coffin-Lowry Syndrome by a Denaturing HPLC-Based Assay
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Q34807687-46CDEC74-241B-45AD-B49F-E28EC51C295CQ37058516-A26502A9-058B-4AC7-9327-F43899C0B9BEQ37408049-61CD4F80-BEBC-4D6E-AEE1-7265082CACB0Q41931318-EED5E684-49FC-4054-8312-7C561AA63035Q42175057-AAC2CEAB-5D17-4FF4-9075-D41B3EF9AFD4Q51931481-023A6C1F-AB40-41B0-9B43-FF8F05F2416AQ53327188-DE19BEC9-CF42-4954-B4C0-5057AB4DA0CEQ57206654-F3388F16-639B-4559-B123-62D62D489F1BQ57573621-366E3C84-2F5C-4C4C-8B86-62F343E27480Q57573629-D4A7C3EF-7EEF-4696-9292-5F0B3AA6A74E
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description
hulumtuese
@sq
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Emanuela Avola
@ast
Emanuela Avola
@en
Emanuela Avola
@es
Emanuela Avola
@nl
Emanuela Avola
@sl
type
label
Emanuela Avola
@ast
Emanuela Avola
@en
Emanuela Avola
@es
Emanuela Avola
@nl
Emanuela Avola
@sl
prefLabel
Emanuela Avola
@ast
Emanuela Avola
@en
Emanuela Avola
@es
Emanuela Avola
@nl
Emanuela Avola
@sl
P1053
E-5435-2017
P106
P1153
6506875039
P21
P31
P3829
P496
0000-0002-6740-665X