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Publications by A Richieri-Costa
Presence of the Apert Canonical S252W FGFR2 Mutation in a Patient Without Severe Syndactyly.
Journal of Medical Genetics
Genetics
Related publications
The Study of Abnormal Bone Development in the Apert Syndrome Fgfr2+/S252w Mouse Using a 3D Hydrogel Culture Model
Bone
Endocrinology
Physiology
Histology
Metabolism
Diabetes
Apert Syndrome With FGFR2 758 C > G Mutation: A Chinese Case Report
Frontiers in Genetics
Genetics
Molecular Medicine
Mutations in the FGFR2 Gene in Mexican Patients With Apert Syndrome
Genetics and Molecular Research
Medicine
Genetics
Molecular Biology
Familial Scaphocephaly Syndrome Caused by a Novel Mutation in the FGFR2 Tyrosine Kinase Domain
Journal of Medical Genetics
Genetics
Bent Bone Dysplasia-Fgfr2 Type, a Distinct Skeletal Disorder, Has Deficient Canonical FGF Signaling
American Journal of Human Genetics
Genetics
882 Syndactyly Type III and Hypotrichosis in Oculodentodigital Syndrome With GJA1 Mutation
Journal of Investigative Dermatology
Biochemistry
Dermatology
Cell Biology
Molecular Biology
A Novel APOC2 Gene Mutation Identified in a Chinese Patient With Severe Hypertriglyceridemia and Recurrent Pancreatitis
Lipids in Health and Disease
Biochemistry
Endocrinology
Clinical Biochemistry
Metabolism
Diabetes
Efficacy of Ruxolitinib Therapy in a Patient With Severe Enterocolitis Associated With a STAT3 Gain of Function Mutation
Gastroenterology
Hepatology
Gastroenterology
Identification of Rare PB2-D701N Mutation From a Patient With Severe Influenza: Contribution of the PB2-D701N Mutation to the Pathogenicity of Human Influenza
Frontiers in Microbiology
Microbiology
