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Publications by Baudouin Forgeot d’Arc
Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant With Autistic-Like Features
BMC Medical Genetics
Genetics
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Case Report: Two Novel VPS13B Mutations in a Chinese Family With Cohen Syndrome and Hyperlinear Palms
BMC Medical Genetics
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Identification of Novel LEPR Mutations in Pakistani Families With Morbid Childhood Obesity
BMC Medical Genetics
Genetics
Identification of Three ADA2 Deficiency Families With Novel CECR1 Mutations
Pediatric Rheumatology
Immunology
Pediatrics
Rheumatology
Allergy
Perinatology
Child Health
Three Novel AVPR2 Mutations in Three Japanese Families With X-Linked Nephrogenic Diabetes Insipidus
Pediatric Research
Child Health
Pediatrics
Perinatology
Mutations in the Keratin 9 Gene in Pakistani Families With Epidermolytic Palmoplantar Keratoderma
Clinical and Experimental Dermatology
Dermatology
Association of Pathogenic Mutations in TULP1 With Retinitis Pigmentosa in Consanguineous Pakistani Families
Archives of Ophthalmology
A Spectrum of CYP1B1 Mutations Associated With Primary Congenital Glaucoma in Families of Pakistani Descent
Human Genome Variation
Biochemistry
Genetics
Molecular Biology
Novel Mutations in the IRF6 Gene in Brazilian Families With Van Der Woude Syndrome
International Journal of Molecular Medicine
Medicine
Genetics
Targeted Exome Sequencing Identified Novel USH2A Mutations in Usher Syndrome Families
PLoS ONE
Multidisciplinary