Partial duplication of the eyebrows with other congenital malformations: a new syndrome

Hepatitis A associated with other focal infections.

The Israel Medical Association journal : IMAJ·2000

Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 16 non-Japanese cases.

Clinical dysmorphology·1992

Cardio-facio cutaneous syndrome: neurological manifestations.

Clinical genetics·1990

The Niikawa-Kuroki (Kabuki make-up) syndrome in a Moslem Arab child.

Clinical genetics·1990

Oculomotor apraxia: the presenting sign of Gaucher disease.

Pediatric neurology·1989

Chronic pigmented purpura: a case report of Schamberg's disease.

Clinical pediatrics·1987

Genetic Testing Unveils a Novel Thrombospondin-1 Domain Containing Protein 1 Gene Variant as the Cause of Chronic Edema in a 79-Year-Old Woman.

Clinical genetics·2026

A Novel De Novo STAG1 Variant at the RAD21 Binding Interface Is Associated With Hypoglycemia, Recurrent Fever, Immunodeficiency and Features of Classical Cohesinopathies.

Clinical genetics·2026

Pathogenicity of NUSAP1 Variants Is Defined by NMD-Escape: Evidence From Two Novel Cases and Systematic Population-Based Variant Analysis.

Clinical genetics·2026

Biallelic ABCA13 Loss-of-Function Variants in a Child With Neurodevelopmental Delay: A Case Report.

Clinical genetics·2026

Variants in the Imprinted IGF2 Gene: A Review and Phasing of De Novo Variants Using Long-Read Sequencing.

Clinical genetics·2026

Establishing a Prognosis When Identifying Pathogenic Variants in Usher Syndrome/DFNB-Related Genes: An Impossible Challenge?

Clinical genetics·2026

Identification of the HLA-DQB1*03:626 Allele in Two Individuals in a Western Indian Family.

HLA·2026

Sporadic Retinal Astrocytic Hamartoma Mimicking Retinoblastoma in a Child: A Case Report and Literature Review.

Clinical case reports·2026

Primary Care Recognition of Rabson-Mendenhall Syndrome Despite Absence of Classical Diabetic Symptoms.

The American journal of case reports·2026

Characterisation of the Novel HLA-A*32:207 Allele by Sequencing-Based Typing.

HLA·2026

Discovery of the Novel HLA-DQB1*05:386 Allele in a Brazilian Volunteer Donor.

HLA·2026

Identification of the Novel HLA-B*57:212 Allele by Next-Generation Sequencing.

HLA·2026

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Partial duplication of the eyebrows with other congenital malformations: a new syndrome

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Hepatitis A associated with other focal infections.

Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 16 non-Japanese cases.

Cardio-facio cutaneous syndrome: neurological manifestations.

The Niikawa-Kuroki (Kabuki make-up) syndrome in a Moslem Arab child.

Oculomotor apraxia: the presenting sign of Gaucher disease.

Chronic pigmented purpura: a case report of Schamberg's disease.

Genetic Testing Unveils a Novel Thrombospondin-1 Domain Containing Protein 1 Gene Variant as the Cause of Chronic Edema in a 79-Year-Old Woman.

A Novel De Novo STAG1 Variant at the RAD21 Binding Interface Is Associated With Hypoglycemia, Recurrent Fever, Immunodeficiency and Features of Classical Cohesinopathies.

Pathogenicity of NUSAP1 Variants Is Defined by NMD-Escape: Evidence From Two Novel Cases and Systematic Population-Based Variant Analysis.

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Identification of the HLA-DQB1*03:626 Allele in Two Individuals in a Western Indian Family.

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Partial duplication of the eyebrows with other congenital malformations: a new syndrome

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