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Journal Article
Journal Article
Lancet Psychiatry, The, ISSN 2215-0366, 2015, Volume 2, Issue 10, pp. 909 - 916
Summary Background Autism spectrum disorder (ASD) phenomenology is reported to be more common in individuals with some genetic syndromes than in the general... 
Psychiatry | PSYCHIATRY | LANGE | CORNELIA | Prevalence | Autism Spectrum Disorder - epidemiology | Humans | Genetic Diseases, Inborn - complications | Female | Male | Risk | Genetic Diseases, Inborn - epidemiology | Autism Spectrum Disorder - etiology | Genetic Diseases, Inborn - diagnosis | Autism Spectrum Disorder - diagnosis
Journal Article
CELL, ISSN 0092-8674, 10/2004, Volume 119, Issue 1, pp. 19 - 31
Ca(v)1.2, the cardiac L-type calcium channel, is important for excitation and contraction of the heart. Its role in other tissues is unclear. Here we present... 
FUNCTIONAL EXPRESSION | BIOCHEMISTRY & MOLECULAR BIOLOGY | HUMAN GENETIC-DISEASE | SUDDEN CARDIAC DEATH | CA2+ CHANNEL | MOLECULAR DETERMINANTS | LONG-QT SYNDROME | LANGE-NIELSEN-SYNDROME | PERVASIVE DEVELOPMENTAL DISORDERS | STATIONARY NIGHT BLINDNESS | POTASSIUM CHANNEL | CELL BIOLOGY | Limb Deformities, Congenital - genetics | Action Potentials - genetics | Autistic Disorder - physiopathology | Calcium - metabolism | Humans | Genetic Diseases, Inborn - genetics | Male | Cell Membrane - genetics | Arrhythmias, Cardiac - physiopathology | Mutation, Missense - genetics | Oocytes | Brain - metabolism | Genetic Diseases, Inborn - complications | Female | Cell Membrane - metabolism | Neurons - metabolism | Child | Abnormalities, Multiple - genetics | Arrhythmias, Cardiac - genetics | Infant, Newborn | Brain Chemistry - genetics | CHO Cells | Autistic Disorder - genetics | Heart - physiopathology | Cricetinae | Brain - physiopathology | Xenopus laevis | Abnormalities, Multiple - physiopathology | Syndrome | Animals | Calcium Channels, L-Type - genetics | Pedigree | Myocytes, Cardiac - metabolism | Limb Deformities, Congenital - complications | Arrhythmias, Cardiac - complications | Genetic Diseases, Inborn - physiopathology | Mice | Calcium Channels, L-Type - metabolism | Autistic Disorder - complications | Calcium Signaling - genetics
Journal Article
Blood, ISSN 0006-4971, 02/2010, Volume 115, Issue 8, pp. 1519 - 1529
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2014, Volume 135, Issue 6, pp. 1641 - 1643.e3
  The underlying genetic mechanisms have been elucidated in the last few years in less than 10% to 15% of the cases and involve mutations in CD19, MS4A1... 
Allergy and Immunology | ALLERGY | COMMON VARIABLE IMMUNODEFICIENCY | NFKB2 MUTATION | IMMUNOLOGY | SEQUENCING DATA | HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS | DEFICIENCY | Common Variable Immunodeficiency - immunology | Alopecia - complications | Alopecia - immunology | Humans | Genetic Diseases, Inborn - genetics | Hypoglycemia - immunology | Molecular Sequence Data | Male | Hypoglycemia - pathology | Killer Cells, Natural - pathology | Genetic Diseases, Inborn - pathology | Adrenocorticotropic Hormone - genetics | Respiratory Tract Infections - genetics | Endocrine System Diseases - immunology | Alopecia - genetics | NF-kappa B p52 Subunit - genetics | Adrenocorticotropic Hormone - deficiency | Base Sequence | Genetic Diseases, Inborn - complications | Killer Cells, Natural - immunology | Adult | Respiratory Tract Infections - complications | B-Lymphocytes - pathology | Endocrine System Diseases - genetics | T-Lymphocytes - pathology | Endocrine System Diseases - pathology | Respiratory Tract Infections - pathology | Hypoglycemia - genetics | Gene Expression | NF-kappa B p52 Subunit - immunology | Common Variable Immunodeficiency - pathology | Genetic Diseases, Inborn - immunology | Common Variable Immunodeficiency - genetics | Common Variable Immunodeficiency - complications | Alopecia - pathology | B-Lymphocytes - immunology | Adrenocorticotropic Hormone - immunology | Respiratory Tract Infections - immunology | Hypoglycemia - complications | Heterozygote | T-Lymphocytes - immunology | Mutation | Cytotoxicity, Immunologic | Endocrine System Diseases - complications | Immunoglobulins | Baldness | Laboratories | Cytotoxicity | Infections | Kinases | Hypothyroidism | Patients | Defects | Genotype & phenotype | Hormone replacement therapy | Age | Immune system
Journal Article
Medicine (United States), ISSN 0025-7974, 2016, Volume 95, Issue 40, p. e5081
Journal Article