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ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetryIdentification of three novel FGF16 mutations in X-linked recessive fusion of the fourth and fifth metacarpals and possible correlation with heart disease.Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features.Low Copy Number of the AMY1 Locus Is Associated with Early-Onset Female Obesity in Finland.A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl SyndromePeriodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement.Detailed molecular and clinical characterization of three patients with 21q deletions.TIDDIT, an efficient and comprehensive structural variant caller for massive parallel sequencing data.Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism.Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of Formation.WNT3 involvement in human bladder exstrophy and cloaca development in zebrafish.Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome.CTNND2-a candidate gene for reading problems and mild intellectual disability.Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.Different mutations in PDE4D associated with developmental disorders with mirror phenotypes.A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT.Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains.Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies.Targeted copy number screening highlights an intragenic deletion of WDR63 as the likely cause of human occipital encephalocele and abnormal CNS development in zebrafish.A Large Inversion Involving GNAS Exon A/B and All Exons Encoding Gsα Is Associated With Autosomal Dominant Pseudohypoparathyroidism Type Ib (PHP1B).Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes.Copy Number Variants Are Enriched in Individuals With Early-Onset Obesity and Highlight Novel Pathogenic Pathways.PLS3 Deletions Lead to Severe Spinal Osteoporosis and Disturbed Bone Matrix Mineralization.Improved structural characterization of chromosomal breakpoints using high resolution custom array-CGH.AMYCNE: Confident copy number assessment using whole genome sequencing data.High-resolution detection of chromosomal rearrangements in leukemias through mate pair whole genome sequencing.Marker chromosome genomic structure and temporal origin implicate a chromoanasynthesis event in a family with pleiotropic psychiatric phenotypes.Further evidence for specific IFIH1 mutation as a cause of Singleton-Merten syndrome with phenotypic heterogeneity.Molecular and clinical characterization of patients with overlapping 10p deletionsClinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNPFlanking complex copy number variants in the same family formed through unequal crossing-over during meiosisMale reproductive health statement (XIIIth international symposium on Spermatology, may 9th-12th 2018, Stockholm, SwedenAutosomal recessive mutations in the COL2A1 gene cause severe spondyloepiphyseal dysplasiaReplicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterizationAutosomal recessive mutations in theCOL2A1gene cause severe spondyloepiphyseal dysplasiaAlu-Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasiasInherited mosaicism for the supernumerary marker chromosome in cat eye syndrome: Inter- and intra-individual variation and correlation to the phenotypeMolecular cytogenetic characterization of a constitutional, highly complex intrachromosomal rearrangement of chromosome 1, with 14 breakpoints and a 0.5 Mb submicroscopic deletionZebrafish Models of Neurodevelopmental Disorders: Limitations and Benefits of Current Tools and Techniques
P50
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P50
description
Zweeds onderzoekster
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hulumtuese
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հետազոտող
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Anna Lindstrand
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Anna Lindstrand
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Anna Lindstrand
@es
Anna Lindstrand
@ga
Anna Lindstrand
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Anna Lindstrand
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Anna Lindstrand
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type
label
Anna Lindstrand
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Anna Lindstrand
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Anna Lindstrand
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Anna Lindstrand
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Anna Lindstrand
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Anna Lindstrand
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Anna Lindstrand
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Lindstrad A
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prefLabel
Anna Lindstrand
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Anna Lindstrand
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Anna Lindstrand
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Anna Lindstrand
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Anna Lindstrand
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Anna Lindstrand
@sl
Anna Lindstrand
@sq
P1053
J-3566-2012
P106
P21
P27
P31
P3829
P496
0000-0003-0806-5602