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2015, Sixth edition., ISBN 1608311767, xii, 576 pages
Top experts from all over the world have been brought together by the editors, to give a world of expertise on this important subject, with a strong emphasis... 
Parkinson Disease | Movement Disorders
Book
2005, ISBN 0750654287, xi, 372
This succinct volume offers an up-to-date review and comparison of the treatment options available for Parkinson's disease, and provides evidence-based... 
Parkinson Disease | Parkinson's disease | Treatment | therapy
Book
Journal of the American College of Cardiology, ISSN 0735-1097, 01/2018, Volume 71, Issue 3, pp. 279 - 288
Journal Article
Journal Article
Connexin 26 and autosomal recessive non-syndromic hearing loss, 07/2003
Prelingual deafness occurs with a frequency of 1 in 1000 live births and is divided into syndromic and non-syndromic forms contributing 40 and 60%... 
hg03010 Non-syndromic, Hearing loss, Autosomal recessive, Connexin 26, DFNB1, mutation detection, Gap junction proteins, GJB2 | Genetics
Journal
American Journal of Medical Genetics, Part A, ISSN 1552-4825, 02/2019, Volume 179, Issue 2, pp. 312 - 316
Mutations in the gene SCAPER (S-phase CyclinA Associated Protein residing in the Endoplasmic Reticulum) have recently been identified as causing syndromic... 
retinitis pigmentosa | syndromic disorder | SCAPER | autosomal recessive | PROTEIN | GENES | GENETICS & HEREDITY | MUTATIONS | Attention deficit disorder | Intellectual disabilities | Retinitis pigmentosa | Hyperactivity | Attention deficit hyperactivity disorder | Retinitis | Mutation | Endoplasmic reticulum | Genetic screening
Journal Article
2018, ISBN 0444632336, Volume 147
The autosomal-recessive cerebellar ataxias comprise more than half of the known genetic forms of ataxia and represent an extensive group of clinically... 
genome | cerebellar ataxia | exome | ataxia | friedreich ataxia | genetic disease | autosomal recessive | Iron-Binding Proteins - genetics | Genes, Recessive - genetics | Humans | Friedreich Ataxia - genetics | Index Medicus
Book Chapter
Molecular Genetics and Metabolism, ISSN 1096-7192, 11/2013, Volume 110, Issue 3, pp. 352 - 361
Journal Article
Dermatology (Actas Dermo-Sifiliográficas, English Edition), ISSN 1578-2190, 2011, Volume 104, Issue 4, pp. 270 - 284
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2009, Volume 124, Issue 6, pp. 1289 - 1302.e4
Background The genetic etiologies of the hyper-IgE syndromes are diverse. Approximately 60% to 70% of patients with hyper-IgE syndrome have dominant mutations... 
Allergy and Immunology | recurrent infection | genomic deletions | human gene mutation | molluscum contagiosum | T H17 cells | Autosomal recessive hyper-IgE syndrome | DOCK8 | primary immunodeficiency | eosinophils | T cells | copy number variations | IgE regulation | 17 cells | IMMUNOLOGY | IDENTIFICATION | REARRANGEMENTS | GENOME | ALLERGY | T(H)17 cells | Haplotypes | Sequence Deletion | Genes | Humans | Families & family life | Child, Preschool | Male | Genomes | Kinases | Female | Job Syndrome | Chromosomes | Child | Deoxyribonucleic acid--DNA | Cytomegalovirus | Genome-Wide Association Study | T-Lymphocytes | Lymphocyte Activation | Zebrafish | Patients | Genes, Recessive | Guanine Nucleotide Exchange Factors | Homozygote | Point Mutation | Turkey | Pedigree | Polymorphism, Single Nucleotide | Mutation | DOCK8 protein, human | Methods | Exons | Leukocytes (eosinophilic) | Helper cells | Immunodeficiency | Homeostasis | Immunoglobulin E | Single-nucleotide polymorphism | Lymphocytes T | Cytokinesis | chromosome 9 | Atopy | Infection | Cell activation | Actin | Point mutation | Eczema | Cytoskeleton | genomics | copy number | Differentiation | Gene mapping | Job's syndrome | Job Syndrome - immunology | Guanine Nucleotide Exchange Factors - genetics | Job Syndrome - genetics | Haplotypes - genetics | Lymphocyte Activation - genetics | Lymphocyte Activation - immunology | T-Lymphocytes - immunology | Job Syndrome - pathology | Allergy | Medical colleges | Asthma in children | College teachers | Allergic reaction | Purines | Gene mutations | Genetic research | Genetic aspects | Children | Health aspects | Human genetics | Index Medicus | Abridged Index Medicus | Life Sciences
Journal Article
Journal Article
Nature Genetics, ISSN 1061-4036, 07/2017, Volume 49, Issue 7, pp. 1025 - 1034
Journal Article