about
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.Spondyloocular Syndrome: Novel Mutations in XYLT2 Gene and Expansion of the Phenotypic Spectrum.A novel mutation in the interleukin-1 receptor antagonist associated with intrauterine disease onset.Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement.PLS3 sequencing in childhood-onset primary osteoporosis identifies two novel disease-causing variants.Recent Discoveries in Monogenic Disorders of Childhood Bone Fragility.Abnormal Proteoglycan Synthesis Due to Gene Defects Causes Skeletal Diseases with Overlapping Phenotypes.The tight junction gene Claudin-1 is associated with atopic dermatitis among Ethiopians.Mutations in FLVCR2 associated with Fowler syndrome and survival beyond infancy.Mutations in influenza A virus (H5N1) and possible limited spread, Turkey, 2006.Different mutations in PDE4D associated with developmental disorders with mirror phenotypes.Intragenic Copy Number Variation in the Filaggrin Gene in Ethiopian Patients with Atopic Dermatitis.Whole-exome sequencing of Ethiopian patients with ichthyosis vulgaris and atopic dermatitis.Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies.Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization.PLS3 Deletions Lead to Severe Spinal Osteoporosis and Disturbed Bone Matrix Mineralization.Pulmonary alveolar microlithiasis with homozygous c.316G > C (p.G106R) mutation: a case report.Autosomal Recessive Osteogenesis Imperfecta Caused by a Novel Homozygous COL1A2 Mutation.High-resolution detection of chromosomal rearrangements in leukemias through mate pair whole genome sequencing.Two novel mutations in XYLT2 cause spondyloocular syndrome.Genomic screening in rare disorders: New mutations and phenotypes, highlighting ALG14 as a novel cause of severe intellectual disabilityA novel frameshift deletion in PLS3 causing severe primary osteoporosisCRTAP variants in early-onset osteoporosis and recurrent fracturesMeiotic recombinations within major histocompatibility complex of human embryosPredisposition to childhood acute lymphoblastic leukemia caused by a constitutional translocation disrupting ETV6Overexpression of chromatin remodeling and tyrosine kinase genes in iAMP21-positive acute lymphoblastic leukemiaGain-of-function mutation of microRNA-140 in human skeletal dysplasiaEarly activating somatic PIK3CA mutations promote ectopic muscle development and upper limb overgrowth
P50
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P50
description
hulumtuese
@sq
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
Fulya Taylan
@ast
Fulya Taylan
@en
Fulya Taylan
@es
Fulya Taylan
@nl
Fulya Taylan
@sl
type
label
Fulya Taylan
@ast
Fulya Taylan
@en
Fulya Taylan
@es
Fulya Taylan
@nl
Fulya Taylan
@sl
prefLabel
Fulya Taylan
@ast
Fulya Taylan
@en
Fulya Taylan
@es
Fulya Taylan
@nl
Fulya Taylan
@sl
P106
P21
P31
P496
0000-0002-2907-0235