Phenotype of coffin lowry syndrome. Medical search. Frequent questions

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Anatomy6

Cells, Cultured Cell Line Brain Fibroblasts Chromosomes, Human, Pair 22 Chromosomes, Human, Pair 15

Organisms8

Armadillos Porcine respiratory and reproductive syndrome virus Mice, Inbred C57BL Mice, Knockout Mice, Transgenic Mice, Mutant Strains White spot syndrome virus 1 Saccharomyces cerevisiae

Diseases113

Syndrome Down Syndrome Metabolic Syndrome X Nephrotic Syndrome Sjogren's Syndrome Abnormalities, Multiple Turner Syndrome Myelodysplastic Syndromes Cushing Syndrome Polycystic Ovary Syndrome Williams Syndrome Acute Coronary Syndrome DiGeorge Syndrome Prader-Willi Syndrome Long QT Syndrome Horner Syndrome Guillain-Barre Syndrome Hemolytic-Uremic Syndrome Tourette Syndrome Compartment Syndromes Antiphospholipid Syndrome Klinefelter Syndrome Werner Syndrome Porcine Reproductive and Respiratory Syndrome Bartter Syndrome Carpal Tunnel Syndrome Reye Syndrome Disease Models, Animal Bloom Syndrome Intellectual Disability Angelman Syndrome Ehlers-Danlos Syndrome Brugada Syndrome HELLP Syndrome Respiratory Distress Syndrome, Adult Facies Wiskott-Aldrich Syndrome Job Syndrome Severe Acute Respiratory Syndrome Restless Legs Syndrome Craniofacial Abnormalities Acquired Immunodeficiency Syndrome Paraneoplastic Syndromes Sweet Syndrome Eye Abnormalities Kallmann Syndrome Churg-Strauss Syndrome Sturge-Weber Syndrome Genetic Predisposition to Disease Chediak-Higashi Syndrome Budd-Chiari Syndrome Bardet-Biedl Syndrome Usher Syndromes Sezary Syndrome Wolff-Parkinson-White Syndrome Sick Sinus Syndrome Beckwith-Wiedemann Syndrome Alagille Syndrome Felty Syndrome Stevens-Johnson Syndrome Cockayne Syndrome Immunologic Deficiency Syndromes Oculocerebrorenal Syndrome Chromosome Deletion Peutz-Jeghers Syndrome Smith-Lemli-Opitz Syndrome Hand Deformities, Congenital ACTH Syndrome, Ectopic Stiff-Person Syndrome Hemorrhagic Fever with Renal Syndrome Orofaciodigital Syndromes Behcet Syndrome Short Bowel Syndrome Duane Retraction Syndrome Zollinger-Ellison Syndrome Serotonin Syndrome Hepatopulmonary Syndrome Costello Syndrome Syndactyly Proteus Syndrome Hermanski-Pudlak Syndrome Microcephaly Limb Deformities, Congenital Dwarfism Complex Regional Pain Syndromes Li-Fraumeni Syndrome LEOPARD Syndrome Goldenhar Syndrome Respiratory Distress Syndrome, Newborn Neuroleptic Malignant Syndrome Klippel-Feil Syndrome Subclavian Steal Syndrome Hantavirus Pulmonary Syndrome Obesity Waardenburg Syndrome Hamartoma Syndrome, Multiple Neoplastic Syndromes, Hereditary Mobius Syndrome Thoracic Outlet Syndrome Systemic Inflammatory Response Syndrome Ectodermal Dysplasia Sleep Apnea Syndromes Wolfram Syndrome Insulin Resistance Coloboma Hepatorenal Syndrome Hypertelorism Capillary Leak Syndrome Acute Disease Adie Syndrome Polyradiculoneuropathy Gitelman Syndrome Ovarian Hyperstimulation Syndrome

Chemicals and Drugs16

RNA, Messenger Transcription Factors Biological Markers Membrane Proteins DNA-Binding Proteins Wiskott-Aldrich Syndrome Protein DNA Primers Nuclear Proteins Genetic Markers Carrier Proteins Bacterial Proteins Drosophila Proteins Proteins Codon, Nonsense Homeodomain Proteins DNA

Analytical, Diagnostic and Therapeutic Techniques and Equipment39

Chemistry Techniques, Analytical Pedigree DNA Mutational Analysis Disease Models, Animal Chromosome Mapping Facies Risk Factors Polymerase Chain Reaction Genetic Complementation Test Case-Control Studies Treatment Outcome Immunohistochemistry Reverse Transcriptase Polymerase Chain Reaction Sequence Analysis, DNA Immunophenotyping Crosses, Genetic Karyotyping Gene Expression Profiling Cloning, Molecular Flow Cytometry Fatal Outcome Retrospective Studies Models, Genetic Genetic Testing Models, Biological Prevalence Follow-Up Studies Blotting, Western Obesity Severity of Illness Index Genetic Association Studies Magnetic Resonance Imaging Mutagenesis, Insertional Cohort Studies Transfection Prognosis Amino Acid Substitution Oligonucleotide Array Sequence Analysis Prospective Studies

Psychiatry and Psychology4

Tourette Syndrome Intellectual Disability Restless Legs Syndrome Asperger Syndrome

Phenomena and Processes46

Phenotype Mutation Genotype Base Sequence Amino Acid Sequence Alleles Mutation, Missense Gene Deletion Heterozygote Cell Differentiation Time Factors Homozygote Signal Transduction Genetic Linkage Genes, Recessive Genetic Predisposition to Disease Genes, Dominant Pregnancy Gene Expression Regulation Gene Expression Gene Expression Regulation, Developmental Point Mutation Chromosome Deletion Exons Consanguinity Genetic Variation Polymorphism, Single Nucleotide Sequence Homology, Amino Acid Polymorphism, Genetic Sequence Deletion Chromosomes, Human, Pair 22 Mosaicism Genetic Markers Cell Division Cell Proliferation Obesity Frameshift Mutation Mutagenesis, Insertional Transcription, Genetic Mutagenesis Codon, Nonsense Transfection Insulin Resistance Haplotypes Amino Acid Substitution Chromosomes, Human, Pair 15

Disciplines and Occupations1

Immunohistochemistry

Information Science5

Molecular Sequence Data Base Sequence Amino Acid Sequence Fatal Outcome Prevalence

Named Groups1

Infant, Newborn

Health Care12

Risk Factors Case-Control Studies Treatment Outcome Fatal Outcome Retrospective Studies Genetic Testing Prevalence Follow-Up Studies Severity of Illness Index Cohort Studies Family Health Prospective Studies

Anatomy Organisms Diseases Chemicals and Drugs Analytical, Diagnostic and Therapeutic Techniques and Equipment Psychiatry and Psychology Phenomena and Processes Disciplines and Occupations Information Science Named Groups Health Care

Armadillos Chemistry Techniques, Analytical Syndrome Phenotype Down Syndrome Metabolic Syndrome X Mutation Nephrotic Syndrome Sjogren's Syndrome Abnormalities, Multiple Turner Syndrome Molecular Sequence Data Myelodysplastic Syndromes Pedigree Cushing Syndrome Polycystic Ovary Syndrome Williams Syndrome Acute Coronary Syndrome DiGeorge Syndrome Prader-Willi Syndrome Long QT Syndrome Genotype Base Sequence Horner Syndrome Guillain-Barre Syndrome Hemolytic-Uremic Syndrome Tourette Syndrome Compartment Syndromes Amino Acid Sequence Antiphospholipid Syndrome Klinefelter Syndrome Alleles Werner Syndrome Porcine Reproductive and Respiratory Syndrome DNA Mutational Analysis Bartter Syndrome Carpal Tunnel Syndrome Reye Syndrome Disease Models, Animal Porcine respiratory and reproductive syndrome virus Bloom Syndrome Intellectual Disability Angelman Syndrome Ehlers-Danlos Syndrome Brugada Syndrome HELLP Syndrome Chromosome Mapping Mice, Inbred C57BL Cells, Cultured Mutation, Missense Gene Deletion Heterozygote Mice, Knockout Respiratory Distress Syndrome, Adult Facies Wiskott-Aldrich Syndrome Job Syndrome Cell Differentiation Severe Acute Respiratory Syndrome Time Factors Homozygote Restless Legs Syndrome Craniofacial Abnormalities Signal Transduction Mice, Transgenic Acquired Immunodeficiency Syndrome Paraneoplastic Syndromes RNA, Messenger Genetic Linkage Sweet Syndrome Transcription Factors Risk Factors Eye Abnormalities Cell Line Polymerase Chain Reaction Kallmann Syndrome Genes, Recessive Churg-Strauss Syndrome Sturge-Weber Syndrome Infant, Newborn Genetic Predisposition to Disease Genetic Complementation Test Chediak-Higashi Syndrome Budd-Chiari Syndrome Genes, Dominant Bardet-Biedl Syndrome Pregnancy Usher Syndromes Gene Expression Regulation Case-Control Studies Sezary Syndrome Treatment Outcome Gene Expression Wolff-Parkinson-White Syndrome Sick Sinus Syndrome Beckwith-Wiedemann Syndrome Biological Markers Alagille Syndrome Immunohistochemistry Membrane Proteins

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