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Publications by P Quartier-dit-maire

Identification of Three ADA2 Deficiency Families With Novel CECR1 Mutations

Pediatric Rheumatology

English

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Identification of Novel LEPR Mutations in Pakistani Families With Morbid Childhood Obesity

BMC Medical Genetics

Genetics

2018

English

Three Novel AVPR2 Mutations in Three Japanese Families With X-Linked Nephrogenic Diabetes Insipidus

English

Identification of Eight Novel VEGFR-3 Mutations in Families With Primary Congenital Lymphoedema

Journal of Medical Genetics

Genetics

2003

English

Identification of Two Novel Mutations Associated With Combined Protein C and Protein S Deficiency

Vascular Diseases and Therapeutics

2017

English

ADA2 Deficiency: Case Report of a New Phenotype and Novel Mutation in Two Sisters

English

TET2 Mutations in Ph-Negative-Myeloproliferative Neoplasms: Identification of Three Novel Mutations and Relationship With Clinical and Laboratory Findings

Open Journal of Blood Diseases

2013

English

Mutations in CECR1 Associated With a Neutrophil Signature in Peripheral Blood

Pediatric Rheumatology

English

Transcobalamin II Deficiency in Four Cases With Novel Mutations

Turkish Journal of Haematology

Hematology

2015

English

Three Novel Α-L-Iduronidase Mutations in 10 Unrelated Chinese Mucopolysaccharidosis Type I Families

Genetics and Molecular Biology

Genetics

Molecular Biology

2011

English

Amanote Research

Discover open access scientific publications

Search, annotate, share and cite publications

Publications by P Quartier-dit-maire

Identification of Three ADA2 Deficiency Families With Novel CECR1 Mutations

Related publications

Identification of Novel LEPR Mutations in Pakistani Families With Morbid Childhood Obesity

Three Novel AVPR2 Mutations in Three Japanese Families With X-Linked Nephrogenic Diabetes Insipidus

Identification of Eight Novel VEGFR-3 Mutations in Families With Primary Congenital Lymphoedema

Identification of Two Novel Mutations Associated With Combined Protein C and Protein S Deficiency

ADA2 Deficiency: Case Report of a New Phenotype and Novel Mutation in Two Sisters

TET2 Mutations in Ph-Negative-Myeloproliferative Neoplasms: Identification of Three Novel Mutations and Relationship With Clinical and Laboratory Findings

Mutations in CECR1 Associated With a Neutrophil Signature in Peripheral Blood

Transcobalamin II Deficiency in Four Cases With Novel Mutations

Three Novel Α-L-Iduronidase Mutations in 10 Unrelated Chinese Mucopolysaccharidosis Type I Families