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ALMS1
Diagnostic Test: OBESITÀ GENETICHE MENDELIANE
Ciliary Dyneins and Dynein Related Ciliopathies
A Role for Alstro¨M Syndrome Protein, Alms1, in Kidney Ciliogenesis and Cellular Quiescence
Dysregulation of Sonic Hedgehog Signaling
Oncoscore: a Novel, Internet-Based Tool to Assess the Oncogenic Potential of Genes
Identification of Variants in CNGA3 As Cause for Achromatopsia by Exome Sequencing of a Single Patient
Prevalent ALMS1 Pathogenic Variants in Spanish Alström Patients
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A Role for Alstro¨M Syndrome Protein, Alms1, in Kidney Ciliogenesis and Cellular Quiescence
Ciliary Genes in Renal Cystic Diseases
Cardiovascular Diseases Genetic Testing Program Information
Bardet-Biedl Syndrome
Targeted High-Throughput Sequencing for Diagnosis of Genetically Heterogeneous Diseases: Efficient Mutation Detection in Bardet
Ciliopathies: Genetics in Pediatric Medicine
Panel-Based Next Generation Sequencing As a Reliable and Efficient Technique to Detect Mutations in Unselected Patients With
RPGRIP1L and FTO – Genes Implicated in the Effects of FTO Intronic Sequence Variants on Food Intake – Also Affect Adipogenesis and Adipocyte Biology
Clinical Characteristics of Individual Organ System Disease in Non-Motile Ciliopathies
A Novel, Internet-Based Tool to Assess the Oncogenic Potential of Genes
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A Very Early Diagnosis of Alstrӧm Syndrome by Next Generation Sequencing
Identifying the Mechanosensory Function of Primary Cilia
A Novel Homozygous ALMS1 Protein Truncation Mutation (C.2938Dupa) Revealed Variable Clinical Expression Among Saudi Alström Syndrome Patients
Genetic Testing for Developmental Disabilities, Intellectual Disability, and Autism Spectrum Disorder Technical Brief Number 23
Role of Alström Syndrome 1 in the Regulation of Blood Pressure and Renal Function
Kidneyseq™: a Comprehensive Inherited Kidney Disease Panel Iowa Institute of Human Genetics
Effect of Combined Drug Therapy and Genetic Modifiers on Hepatosteatosis and Fibrosis in a Mouse Model for Alstrã¶M Syndrome
Alström Syndrome: Genetics and Clinical Overview
Hiding in Plain Sight: Genetic Deaf-Blindness Is Not Always Usher Syndrome
Systematic Integrated Analysis of Genetic and Epigenetic Variation in Diabetic Kidney Disease
A Deleterious Mutation in the ALMS1 Gene in a Naturally Occurring Model of Hypertrophic Cardiomyopathy in the Sphynx Cat Kathryn M
ALMS1 Gene ALMS1, Centrosome and Basal Body Associated Protein
Target Capture Sequencing for Inherited Retinal Degenerations
Somatic Mutations in Renal Cyst Epithelium in Autosomal Dominant Polycystic Kidney Disease
Whole-Exome Sequencing Identifies Two Novel ALMS1 Mutations in Indian Patients with Leber Congenital Amaurosis
Role of Alström Syndrome 1 (Alms1) in Nkcc2 Endocytosis, Thick Ascending Limb Function, Blood Pressure Regulation and Metabolic
The Role of Alström Syndrome 1 (Alms1) in Hypertension, Salt Sensitivity and Metabolic Syndrome Keyona Nicole King-Medina Wayne State University
Genetics Home Reference; a Report to the Board of Scientific Counselors
Cone Rod Dystrophy Precision Panel Overview Indications Clinical Utility
5Th Annual Medical Student Research Day
Developmental Disruptions Underlying Brain Abnormalities in Ciliopathies
The Transcriptional Signature Associated with Human Motile Cilia Anirudh Patir, Amy M
Disease of the Month
Identification of Genetic Variants in 65 Obesity Related Genes in a Cohort of Portuguese Obese Individuals
The Meckel-Gruber Syndrome Protein TMEM67 Controls Basal Body Positioning and Epithelial Branching Morphogenesis in Mice Via the Non-Canonical Wnt Pathway Zakia A
Bardet-Biedl Syndrome Proteins Regulate Intracellular Signaling and Neuronal Function in Patient-Specific Ipsc-Derived Neurons
Subcellular Localization of ALMS1 Supports Involvement of Centrosome and Basal Body Dysfunction in the Pathogenesis of Obesity
Switching on Cilia: Transcriptional Networks Regulating Ciliogenesis Semil P
2018 EAU Male Hypogonadism Search Strategy
Blueprint Genetics Bardet-Biedl Syndrome Panel
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Alstro¨M Syndrome
Understanding Primary Ciliary Dyskinesia and Other Ciliopathies
Alms1 Mutant Zebrafish Do Not Show Hair Cell Phenotypes Seen in Other Cilia Mutants
Comprehensive Genetic Testing for Hearing and Vision Loss
The Link Between Cilia Proteins and Obesity
Contributions of Rare Gene Variants to Familial and Sporadic FSGS
Biedl Syndrome (BBS) in CEP76
Cilia and Flagella Are Slender Projections from Cells with a Stereotyped Microtubule-Based Structure That Includes a Ring Of