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MKKS
Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity Received: 11 November 2016 Audrey E
Loss of C. Elegans BBS-7 and BBS-8 Protein Function Results in Cilia Defects and Compromised Intraflagellar Transport
Weight Patterns and Genetics in a Rare Obesity Syndrome
[Frontiers in Bioscience 13, 2633-2652, January 1, 2008] 2633 Intraflagellar Transport: from Molecular Characterisation to Mech
Inhibition of Neural Crest Migration Underlies Craniofacial Dysmorphology and Hirschsprung's Disease in Bardet–Biedl Syndrom
Molecular Diagnostic Requisition
Progressive Characterization of Visual Phenotype in Bardet-Biedl Syndrome Mutant Mice
MKKS Is a Centrosome-Shuttling Protein Degraded by Disease
Defects and Compromised Intraflagellar Transport BBS-7 and BBS-8 Protein Function Results in Cilia C. Elegans Loss Of
Ciliary Genes in Renal Cystic Diseases
Clinical and Genetic Heterogeneity of Primary Ciliopathies (Review)
Dlec1 Is Required for Spermatogenesis and Male Fertility in Mice
Expanding the Clinical, Allelic, and Locus Heterogeneity of Retinal Dystrophies
MKKS Gene Mckusick-Kaufman Syndrome
Exploring the Genetic Landscape of Retinal Diseases in North-Western Pakistan Reveals a High Degree of Autozygosity and a Prevalent Founder Mutation in ABCA4
Tissue/Planar Cell Polarity in Vertebrates
Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss
What's New in Genetics
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Comprehensive Molecular Diagnosis of Bardet-Biedl Syndrome by High-Throughput Targeted Exome Sequencing
A Novel Homozygous Missense Mutation P.P388S in TULP1 Causes Protein Instability and Retinitis Pigmentosa
Kidneyseq™ V4 – 312 Genes CAKUT Branchiooculofacial Syndrome AD
Novel Compound Heterozygous BBS2 and Homozygous MKKS Variants Detected in Chinese Families with Bardet–Biedl Syndrome
Rare Insights Into Common Disease TECHNOLOGY
Perkinelmer Genomics to Request the Saliva Swab Collection Kit for Patients That Cannot Provide a Blood Sample As Whole Blood Is the Preferred Sample
Further Support for Digenic Inheritance in Bardet-Biedl Syndrome S Fauser, M Munz, D Besch
Ftm Is a Novel Basal Body Protein of Cilia Involved in Shh Signalling
The Nonmotile Ciliopathies Jonathan L
EGL Test Description
Next-Generation Sequencing in the Diagnosis of Patients with Bardet–Biedl Syndrome—New Variants and Relationship with Hyperglycemia and Insulin Resistance
Bardet Biedl Syndrome
Combining Cep290 and Mkks Ciliopathy Alleles in Mice Rescues Sensory Defects and Restores Ciliogenesis
EGL Test Description
BBS Infosheet 6-10-19
Common Variants in Mendelian Kidney Disorder Genes and Their Association with Renal Function And
MKKS/BBS6, a Divergent Chaperonin-Like Protein Linked to the Obesity Disorder Bardet-Biedl Syndrome, Is a Novel Centrosomal Component Required for Cytokinesis
Altered Hematopoietic System and Self-Tolerance in Bardet-Biedl Syndrome