Fil: Bevilacqua, Florencia. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica. Departamento de Diagnóstico Médico; Argentina.Fil: Alberto, Guillermo. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica. Departamento de Diagnóstico Médico; Argentina.Fil: Duarte, Santiago Pablo. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica. Departamento de Diagnóstico Médico; Argentina.Fil: Serra, Marina. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica. Departamento de Diagnóstico Médico; Argentina.Fil: Basterra, Julieta. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica. Departamento de Diagnóstico Médico; Argentina.Fil: Espeche, Lucía. Department of Clinical GeneticsFil: Cerretini, Roxana Inés. Department of Clinical ...
International audienceOBJECTIVE: To determine the spectrum of clinical, neuropsychological, and neur...
Introduction: Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a neurologic disor...
Introduction: Whole genome microarray techniques are a primary tool for the etiological assessment i...
Fil: Perandones, Claudia. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.Fil: C...
Microcephaly primary hereditary (MCPH) is a congenital disease characterized by nonsyndromic reducti...
We report on two Portuguese sisters with a very similar phenotype characterized by severe intellectu...
Primary microcephaly (MCPH) is a genetically heterogeneous disorder showing an autosomal recessive m...
Here we report on a Portuguese family with three sisters who shared moderate intellectual disability...
International audienceAIM To characterize the cortical structure, developmental, and cognitive profi...
Background: Autosomal recessive defects of either the B1, E1, M1 or S1 subunit of the Adaptor Protei...
X-linked intellectual disability can be diagnosed in about 10–12% of intellectually disabled males. ...
A 3-year-old girl, her mother, and maternal uncle had microcephaly and mental retardation. Their fac...
Basel-Vanagaite-Smirin-Yosef syndrome is a recently described autosomal recessive intellectual disab...
Microcephaly is the clinical finding of a head circumfer-ence measurement greater than three standar...
Biallelic loss-of-function variants in MED23 cause a recessive syndromic intellectual disability con...
International audienceOBJECTIVE: To determine the spectrum of clinical, neuropsychological, and neur...
Introduction: Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a neurologic disor...
Introduction: Whole genome microarray techniques are a primary tool for the etiological assessment i...
Fil: Perandones, Claudia. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.Fil: C...
Microcephaly primary hereditary (MCPH) is a congenital disease characterized by nonsyndromic reducti...
We report on two Portuguese sisters with a very similar phenotype characterized by severe intellectu...
Primary microcephaly (MCPH) is a genetically heterogeneous disorder showing an autosomal recessive m...
Here we report on a Portuguese family with three sisters who shared moderate intellectual disability...
International audienceAIM To characterize the cortical structure, developmental, and cognitive profi...
Background: Autosomal recessive defects of either the B1, E1, M1 or S1 subunit of the Adaptor Protei...
X-linked intellectual disability can be diagnosed in about 10–12% of intellectually disabled males. ...
A 3-year-old girl, her mother, and maternal uncle had microcephaly and mental retardation. Their fac...
Basel-Vanagaite-Smirin-Yosef syndrome is a recently described autosomal recessive intellectual disab...
Microcephaly is the clinical finding of a head circumfer-ence measurement greater than three standar...
Biallelic loss-of-function variants in MED23 cause a recessive syndromic intellectual disability con...
International audienceOBJECTIVE: To determine the spectrum of clinical, neuropsychological, and neur...
Introduction: Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a neurologic disor...
Introduction: Whole genome microarray techniques are a primary tool for the etiological assessment i...