Malpuech syndrome: a possible relationship with the Wolf-Hirschhorn/Pitt-Roger-Danks phenotype

The clinical management of children with achondroplasia in Italy: results of clinician and parent/caregiver surveys.

Journal of endocrinological investigation·2023

Drooling outcome measures in paediatric disability: a systematic review.

European journal of pediatrics·2022

Prenatal profile of Pallister-Killian syndrome: Retrospective analysis of 114 pregnancies, literature review and approach to prenatal diagnosis.

American journal of medical genetics. Part A·2018

Characterization of multi-locus imprinting disturbances and underlying genetic defects in patients with chromosome 11p15.5 related imprinting disorders.

Epigenetics·2018

In vitro efficacy of ARQ 092, an allosteric AKT inhibitor, on primary fibroblast cells derived from patients with PIK3CA-related overgrowth spectrum (PROS).

Neurogenetics·2018

Daily life changes and adaptations investigated in 154 families with a child suffering from a rare disability at a public centre for rare diseases in Northern Italy.

Italian journal of pediatrics·2016

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

AA amyloidosis in familial Mediterranean fever: a comparative study of clinical and genetic features between Algerian probands and their relatives.

Rheumatology international·2026

Sitosterolemia in pregnancy: A rare lipid disorder and its obstetric management.

Obstetric medicine·2026

Bone and Cartilage Staining for Skeletal Preparations.

Methods in molecular biology (Clifton, N.J.)·2026

Bidirectional Mendelian randomization between oral microbiota and allergic rhinitis in East Asian populations.

Journal of oral microbiology·2026

Correlation analysis between eight anthropometric indicators and arterial stiffness in relatively healthy Chinese adults.

Frontiers in nutrition·2026

Heritability - A Paradox of Quantitative Genetics.

Genetics·2026

Related Experiment Videos

Malpuech syndrome: a possible relationship with the Wolf-Hirschhorn/Pitt-Roger-Danks phenotype

Related Concept Videos

The clinical management of children with achondroplasia in Italy: results of clinician and parent/caregiver surveys.

Drooling outcome measures in paediatric disability: a systematic review.

Prenatal profile of Pallister-Killian syndrome: Retrospective analysis of 114 pregnancies, literature review and approach to prenatal diagnosis.

Characterization of multi-locus imprinting disturbances and underlying genetic defects in patients with chromosome 11p15.5 related imprinting disorders.

In vitro efficacy of ARQ 092, an allosteric AKT inhibitor, on primary fibroblast cells derived from patients with PIK3CA-related overgrowth spectrum (PROS).

Daily life changes and adaptations investigated in 154 families with a child suffering from a rare disability at a public centre for rare diseases in Northern Italy.

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.

AA amyloidosis in familial Mediterranean fever: a comparative study of clinical and genetic features between Algerian probands and their relatives.

Sitosterolemia in pregnancy: A rare lipid disorder and its obstetric management.

Bone and Cartilage Staining for Skeletal Preparations.

Bidirectional Mendelian randomization between oral microbiota and allergic rhinitis in East Asian populations.

Correlation analysis between eight anthropometric indicators and arterial stiffness in relatively healthy Chinese adults.

Heritability - A Paradox of Quantitative Genetics.

Related Experiment Videos

Malpuech syndrome: a possible relationship with the Wolf-Hirschhorn/Pitt-Roger-Danks phenotype

Related Concept Videos

Related Articles