Clinical features in the Wiedemann-Beckwith syndrome

[The Wiedemann-Beckwith syndrome. Its natural history and levels of prevention].

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Autosomal dominant macroglossia: an addendum to the etiological classification.

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Wiedemann-Beckwith syndrome: clinical, cytogenetical and radiological observations in 39 new cases.

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[Congenital contractural arachnodactyly. Report of 2 clinical cases].

Boletin medico del Hospital Infantil de Mexico·1989

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Two Japanese Cases Highlighting Structural and Phenotypic Overlap in AGO1- and AGO2-Related Neurodevelopmental Disorders.

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A De Novo DHX16 Variant Associated With Neuromuscular Oculoauditory Syndrome Regulates Pre-mRNA Splicing In Vitro.

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Different age, different phenotype: a comparative analysis of juvenile and adult-onset dermatomyositis from a tertiary center.

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Clinical features in the Wiedemann-Beckwith syndrome

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[The Wiedemann-Beckwith syndrome. Its natural history and levels of prevention].

Autosomal dominant macroglossia: an addendum to the etiological classification.

Wiedemann-Beckwith syndrome: clinical, cytogenetical and radiological observations in 39 new cases.

[Karyotype-phenotype correlation in a child with an idic (Yp)].

[AEC syndrome: ankyloblepharon, ectodermal defect, cleft lip and palate (Hay-Wells syndrome)].

[Congenital contractural arachnodactyly. Report of 2 clinical cases].

The First Case of Isolated Uterine Atony as the Only Symptom in an Individual With ACTG2-Associated Visceral Myopathy.

Sotos and Malan Syndromes in Childhood: Molecular and Clinical Findings From a Nationwide Cohort of 48 Patients.

Genetic Architecture of Pediatric Cardiomyopathies Assessed by Whole-Exome Sequencing: Insights Into Early-Onset and Syndromic Forms.

Two Japanese Cases Highlighting Structural and Phenotypic Overlap in AGO1- and AGO2-Related Neurodevelopmental Disorders.

Surviving Males With PORCN Variants: Expanding the Clinical, Molecular, and Mechanistic Spectrum.

A De Novo DHX16 Variant Associated With Neuromuscular Oculoauditory Syndrome Regulates Pre-mRNA Splicing In Vitro.

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