Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Ann Nordgren

Gain-Of-Function Mutation of microRNA-140 in Human Skeletal Dysplasia

Nature Medicine

Molecular Biology

English

Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S , Which Encode Subcomponents C1r and C1s of Complement

American Journal of Human Genetics

English

Neu-Laxova Syndrome Is a Heterogeneous Metabolic Disorder Caused by Defects in Enzymes of the L-Serine Biosynthesis Pathway

American Journal of Human Genetics

English

Reversed Gender Ratio of Autism Spectrum Disorder in Smith-Magenis Syndrome

Molecular Autism

Developmental Neuroscience

Developmental Biology

Molecular Biology

English

A Novel 13 Base Pair Insertion in the Sonic Hedgehog ZRS Limb Enhancer (ZRS/LMBR1) Causes Preaxial Polydactyly With Triphalangeal Thumb

English

Microdeletion of 7p12.1p13, Including IKZF1 , Causes Intellectual Impairment, Overgrowth, and Susceptibility to Leukaemia

British Journal of Haematology

English

A Novel Phenotype in N-Glycosylation Disorders: Gillessen-Kaesbach–Nishimura Skeletal Dysplasia Due to Pathogenic Variants in ALG9

European Journal of Human Genetics

English

Front Cover

Clinical Genetics

English

Early Activating Somatic PIK3CA Mutations Promote Ectopic Muscle Development and Upper Limb Overgrowth

Clinical Genetics

English

Increased Risk of Colorectal Cancer in Patients Diagnosed With Breast Cancer in Women

Cancer Epidemiology

Cancer Research

English