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Publications by Irene Mancuso

A Double Cryptic Chromosome Imbalance Is an Important Factor to Explain Phenotypic Variability in Wolf–Hirschhorn Syndrome

European Journal of Human Genetics

English

Related publications

Molecular Characterisation of Chromosome 4p Deletions Resulting in Wolf-Hirschhorn Syndrome.

Journal of Medical Genetics

English

Meiotic Prophase I Defects in an Oligospermic Man With Wolf-Hirschhorn Syndrome With Ring Chromosome 4

Molecular Cytogenetics

Molecular Medicine

Molecular Biology

English

Paternal Origin of the De Novo Deleted Chromosome 4 in Wolf-Hirschhorn Syndrome.

Journal of Medical Genetics

English

Perioperative Care of an Infant With Wolf-Hirschhorn Syndrome: Is There a Risk of Malignant Hyperthermia

Journal of Medical Cases

English

WHSC1L1 (Wolf-Hirschhorn Syndrome Candidate 1 Like Gene 1)

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Cancer Research

English

Clinical Utility Gene Card For: Wolf–Hirschhorn (4p-) Syndrome

European Journal of Human Genetics

English

De Novo Truncating Variant in NSD2gene Leading to Atypical Wolf-Hirschhorn Syndrome Phenotype

BMC Medical Genetics

English

TheLETM1/YOL027Gene Family Encodes a Factor of the Mitochondrial K+Homeostasis With a Potential Role in the Wolf-Hirschhorn Syndrome

Journal of Biological Chemistry

Molecular Biology

English

Growth Charts for Wolf-Hirschhorn Syndrome (0–4 Years of Age)

European Journal of Pediatrics

English