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Publications by A Superti-Furga
Identification of Loss-Of-Function Mutations of SLC35D1 in Patients With Schneckenbecken Dysplasia, but Not With Other Severe Spondylodysplastic Dysplasias Group Diseases
Journal of Medical Genetics
Genetics
Familial Syndrome of Infantile Polycythemia With Markedly Elevated Erythropoietin, Severe Pulmonary Hypertension, and Intrapulmonary Hematopoiesis - An "Inappropriate" Hypoxic Response?
Pediatric Research
Child Health
Pediatrics
Perinatology
Related publications
Schneckenbecken Dysplasia
Filaggrin Loss of Function Mutations Are a Factor in Patients With Multiple Contact Allergies.
Contact Dermatitis
Dermatology
Allergy
Immunology
Severe Cartilage Degeneration in Patients With Developmental Dysplasia of the Hip
IUBMB Life
Biochemistry
Genetics
Clinical Biochemistry
Cell Biology
Molecular Biology
Recessive Mutations of TMC1 Associated With Moderate to Severe Hearing Loss
Neurogenetics
Molecular Neuroscience
Genetics
Cellular
Rehabilitation After Arthroplasty in Patients With Severe Type of Hip Joint Dysplasia
TRAUMA
TheGNASComplex Locus and Human Diseases Associated With Loss-Of-Function Mutations or Epimutations Within This Imprinted Gene
Hormone Research in Paediatrics
Child Health
Endocrinology
Perinatology
Pediatrics
Metabolism
Diabetes
Rare Loss-Of-Function Mutations of PTGIR Identified in Fibromuscular Dysplasia and Spontaneous Coronary Artery Dissection
Definition of Periarticulare Structure’s State in Patients With Hip’s Joint Severe Local Dysplasia
TRAUMA
Loss of Function Mutations inNNTAre Associated With Left Ventricular NoncompactionCLINICAL PERSPECTIVE
Circulation: Cardiovascular Genetics
