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Publications by Ana Margarida Alves

Exome Sequencing in a Consanguineous Family Clinically Diagnosed With Early-Onset Alzheimer's Disease Identifies a Homozygous CTSF Mutation

Neurobiology of Aging

Developmental Biology

English

Related publications

Whole-Exome Sequencing Identifies a Potential TTN Mutation in a Multiplex Family With Inguinal Hernia

Hernia : the journal of hernias and abdominal wall surgery

English

Whole Exome Sequencing Identifies a Novel Dominant Missense Mutation Underlying Leukonychia in a Pakistani Family

Journal of Human Genetics

English

Whole Exome Sequencing Identifies a Novel and a Recurrent Mutation inBBS2Gene in a Family With Bardet-Biedl Syndrome

BioMed Research International

Molecular Biology

English

Whole-Exome Sequencing in a Japanese Family With Highly Aggregated Diabetes Identifies a Candidate Susceptibility Mutation in ADAMTSL3

Diabetes Research and Clinical Practice

Internal Medicine

English

Exome Sequencing Reveals a Heterozygous OAS3 Mutation in a Chinese Family With Juvenile-Onset Open-Angle Glaucoma

Investigative Ophthalmology and Visual Science

Molecular Neuroscience

Sensory Systems

English

Whole Exome Sequencing for Handedness in a Large and Highly Consanguineous Family

Neuropsychologia

Cognitive Neuroscience

Behavioral Neuroscience

Cognitive Psychology

English

Exome Sequencing Identifies a DYNC1H1 Mutation in a Large Pedigree With Dominant Axonal Charcot-Marie-Tooth Disease

American Journal of Human Genetics

English

Clinical Exome Sequencing Identifies a Novel TUBB4A Mutation in a Child With Static Hypomyelinating Leukodystrophy

Pediatric Neurology

Developmental Neuroscience

English

Exome Sequencing Identifies a Novel SMCHD1 Mutation in Facioscapulohumeral Muscular Dystrophy 2

Neuromuscular Disorders

English