Trisomy 18 with unilateral atypical ectrodactyly

DNA methylation epi-signature is associated with two molecularly and phenotypically distinct clinical subtypes of Phelan-McDermid syndrome.

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Visceral afferent and efferent connections in the brain.

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Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities.

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Short-term memory deficits in carrier females with KDM5C mutations.

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Germline mutation in BRAF codon 600 is compatible with human development: de novo p.V600G mutation identified in a patient with CFC syndrome.

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Escape of the yolk sac: a hypothesis to explain the embryogenesis of gastroschisis.

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Defects of blastogenesis.

American journal of medical genetics·2002

Malformations of the craniofacial region: evolutionary, embryonic, genetic, and clinical perspectives.

American journal of medical genetics·2002

Limb anomalies: Developmental and evolutionary aspects.

American journal of medical genetics·2002

Molecular etiology of gut malformations and diseases.

American journal of medical genetics·2002

Ectodermal dysplasia with acanthosis nigricans (Lelis syndrome).

American journal of medical genetics·2002

Three cases of tetrasomy 9p.

American journal of medical genetics·2002

Adult-Diagnosed Alagille Syndrome Presenting as Isolated Liver Disease.

Journal of clinical and experimental hepatology·2026

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Kyobu geka. The Japanese journal of thoracic surgery·2025

Related Experiment Videos

Trisomy 18 with unilateral atypical ectrodactyly

Related Concept Videos

DNA methylation epi-signature is associated with two molecularly and phenotypically distinct clinical subtypes of Phelan-McDermid syndrome.

Visceral afferent and efferent connections in the brain.

Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities.

Short-term memory deficits in carrier females with KDM5C mutations.

Germline mutation in BRAF codon 600 is compatible with human development: de novo p.V600G mutation identified in a patient with CFC syndrome.

Escape of the yolk sac: a hypothesis to explain the embryogenesis of gastroschisis.

Defects of blastogenesis.

Malformations of the craniofacial region: evolutionary, embryonic, genetic, and clinical perspectives.

Limb anomalies: Developmental and evolutionary aspects.

Molecular etiology of gut malformations and diseases.

Ectodermal dysplasia with acanthosis nigricans (Lelis syndrome).

Three cases of tetrasomy 9p.

Adult-Diagnosed Alagille Syndrome Presenting as Isolated Liver Disease.

The Novel Allele, HLA-DPA1*01:213, With a Non-Synonymous Mutation in Exon 3.

Adult subarachnoid hemorrhage from vein of Galen aneurysmal malformation due to ruptured feeder aneurysm: A case report with long-term MRI review.

Novel Heterozygous Variant in RP1L1 Gene With Retinitis Pigmentosa Phenotype: A Case Report.

Large Infected Abdominal Wall Abscess Following a Minor Mechanical Strain: A Case Report.

[Main Trunk Interposition for Adult Anomalous Origin of the Left Coronary Artery from the Pulmonary Artery Using a Great Saphenous Vein:Report of a Case].

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Trisomy 18 with unilateral atypical ectrodactyly

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