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Publications by B Schmalenberger
A Novel Mutation (A886g) in Exon 5 of FGFR2 in Members of a Family With Crouzon Phenotype and Plagiocephaly.
Journal of Medical Genetics
Genetics
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BIGH3 Mutation in a Bangladeshi Family With a Variable Phenotype of LCDI
Eye
Medicine
Arts
Sensory Systems
Ophthalmology
Humanities
Compound Heterozygosity of a Novel Exon 3 Frameshift (p.R357P Fs*24) Mutation and Y486D Mutation in Exon 5 of the UGT1A1 Gene in a Thai Infant With Crigler-Najjar Syndrome Type 2
Genetics and Molecular Research
Medicine
Genetics
Molecular Biology
IL2RG Hypomorphic Mutation: Identification of a Novel Pathogenic Mutation in Exon 8 and a Review of the Literature
Allergy, Asthma and Clinical Immunology
Immunology
Pulmonary
Allergy
Respiratory Medicine
A Phenotype of Atypical Apraxia of Speech in a Family Carrying SQSTM1 Mutation
Journal of Alzheimer's Disease
Gerontology
Clinical Psychology
Mental Health
Psychiatry
Geriatrics
Medicine
Neuroscience
A Novel KCNA1 Mutation in a Family With Episodic Ataxia and Malignant Hyperthermia
Neurogenetics
Molecular Neuroscience
Genetics
Cellular
Heterozygous Glucokinase Splicing Mutation - Identical Genotype With Variable Phenotype in a Single Family
Endocrine Abstracts
A Novel Splice Site Mutation inSMARCAL1results in Aberrant Exon Definition in a Child With Schimke Immunoosseous Dysplasia
American Journal of Medical Genetics, Part A
Genetics
Progranulin Mutation Analysis: Identification of One Novel Mutation in Exon 12 Associated With Frontotemporal Dementia
Neurobiology of Aging
Aging
Gerontology
Developmental Biology
Geriatrics
Neuroscience
Neurology
A Novel Mutation in a Kazakh Family With X-Linked Alport Syndrome
PLoS ONE
Multidisciplinary
