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Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype -phenotype correlations

European journal of human genetics : EJHG, 2009-06, Vol.17 (6), p.733-740

2009

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Autoimmune hepatitis in genetic syndromes: A literature review

World journal of hepatology, 2021-10, Vol.13 (10), p.1328-1340

2021

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Serum interleukin 17, interleukin 23, and interleukin 10 values in children with atopic eczema/dermatitis syndrome (AEDS): association with clinical severity and phenotype

Allergy and asthma proceedings, 2015-01, Vol.36 (1), p.74

2015

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Description, Nomenclature, and Mapping of a Novel Cerebello-Renal Syndrome with the Molar Tooth Malformation

American journal of human genetics, 2003-09, Vol.73 (3), p.663-670

2003

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RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders

Clinical genetics, 2008-08, Vol.74 (2), p.164-170

2008

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Cutis laxa in Kabuki make-up syndrome

Journal of the American Academy of Dermatology, 2005-11, Vol.53 (5), p.S247-S251

2005

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Rituximab for the treatment of post‐bone marrow transplantation refractory hemolytic anemia in a child with Omenn's syndrome

Pediatric transplantation, 2007-08, Vol.11 (5), p.552-556

2007

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A mitochondrial DNA mutation (A3243g mtDNA) in a family with cyclic vomiting

European journal of pediatrics, 2003-10, Vol.162 (10), p.727-728

2003

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Confirmation of Nablus mask-like facial syndrome

American journal of medical genetics, 2003-09, Vol.121A (3), p.283-285

2003

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Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype -phenotype correlations

Autoimmune hepatitis in genetic syndromes: A literature review

Serum interleukin 17, interleukin 23, and interleukin 10 values in children with atopic eczema/dermatitis syndrome (AEDS): association with clinical severity and phenotype

Description, Nomenclature, and Mapping of a Novel Cerebello-Renal Syndrome with the Molar Tooth Malformation

RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders

Cutis laxa in Kabuki make-up syndrome

Rituximab for the treatment of post‐bone marrow transplantation refractory hemolytic anemia in a child with Omenn's syndrome

A mitochondrial DNA mutation (A3243g mtDNA) in a family with cyclic vomiting

Confirmation of Nablus mask-like facial syndrome

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