Anomalías congénitas letales.

Same author

Novel intragenic deletion in OPHN1 in a family causing XLMR with cerebellar hypoplasia and distinctive facial appearance.

Clinical genetics·2010

Same author

Pallister-Killian syndrome: tetrasomy of 12pter-->12p11.22 in a boy with an analphoid, inverted duplicated marker chromosome.

Clinical genetics·2007

Same author

The value of MLPA in Waardenburg syndrome.

Genetic testing·2007

Same author

The prenatal diagnosis of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) by mutation analysis.

Prenatal diagnosis·2005

Same author

Characterization of an analphoid supernumerary marker chromosome derived from 15q25-->qter using high-resolution CGH and multiplex FISH analyses.

Clinical genetics·2005

Same author

Molecular cytogenetic characterization of multiple intrachromosomal rearrangements of chromosome 2q in a patient with Waardenburg's syndrome and other congenital defects.

Clinical genetics·2004

Same journal

Education Leadership in Accreditation Reform-Reply.

JAMA·2026

Same journal

Complexity of Diagnosing Volume Overload.

JAMA·2026

Same journal

Incorrect Data in Rational Clinical Examination Article.

JAMA·2026

Same journal

Education Leadership in Accreditation Reform.

JAMA·2026

Same journal

Complexity of Diagnosing Volume Overload-Reply.

JAMA·2026

Same journal

Antiviral Therapies for Adults With Mild to Moderate COVID-19 Infection.

JAMA·2026

Videos de Experimentos Relacionados

Anomalías congénitas letales.

Videos de Conceptos Relacionados

Novel intragenic deletion in OPHN1 in a family causing XLMR with cerebellar hypoplasia and distinctive facial appearance.

Pallister-Killian syndrome: tetrasomy of 12pter-->12p11.22 in a boy with an analphoid, inverted duplicated marker chromosome.

The value of MLPA in Waardenburg syndrome.

The prenatal diagnosis of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) by mutation analysis.

Characterization of an analphoid supernumerary marker chromosome derived from 15q25-->qter using high-resolution CGH and multiplex FISH analyses.

Molecular cytogenetic characterization of multiple intrachromosomal rearrangements of chromosome 2q in a patient with Waardenburg's syndrome and other congenital defects.

Education Leadership in Accreditation Reform-Reply.

Complexity of Diagnosing Volume Overload.

Incorrect Data in Rational Clinical Examination Article.

Education Leadership in Accreditation Reform.

Complexity of Diagnosing Volume Overload-Reply.

Antiviral Therapies for Adults With Mild to Moderate COVID-19 Infection.

Videos de Experimentos Relacionados

Anomalías congénitas letales.

Videos de Conceptos Relacionados

Artículos Relacionados

Novel intragenic deletion in OPHN1 in a family causing XLMR with cerebellar hypoplasia and distinctive facial appearance.

Pallister-Killian syndrome: tetrasomy of 12pter-->12p11.22 in a boy with an analphoid, inverted duplicated marker chromosome.

The value of MLPA in Waardenburg syndrome.

The prenatal diagnosis of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) by mutation analysis.

Characterization of an analphoid supernumerary marker chromosome derived from 15q25-->qter using high-resolution CGH and multiplex FISH analyses.

Molecular cytogenetic characterization of multiple intrachromosomal rearrangements of chromosome 2q in a patient with Waardenburg's syndrome and other congenital defects.

Education Leadership in Accreditation Reform-Reply.

Complexity of Diagnosing Volume Overload.

Incorrect Data in Rational Clinical Examination Article.

Education Leadership in Accreditation Reform.

Complexity of Diagnosing Volume Overload-Reply.

Antiviral Therapies for Adults With Mild to Moderate COVID-19 Infection.