about
Reduced sodium/proton exchanger NHE3 activity causes congenital sodium diarrheaMutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophyAn overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study.Loss of dermatan-4-sulfotransferase 1 function results in adducted thumb-clubfoot syndrome.WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease.ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation.Congenital disorders of glycosylation--a challenging group of IEMs.Homozygous SALL1 mutation causes a novel multiple congenital anomaly-mental retardation syndrome.Congenital secretory diarrhoea caused by activating germline mutations in GUCY2C.Prenatal diagnosis of apert syndrome with cloverleaf skull deformity using ultrasound, fetal magnetic resonance imaging and genetic analysis.Loss of dermatan sulfate epimerase (DSE) function results in musculocontractural Ehlers-Danlos syndrome.Chest pain in hospitalized patients: cause-specific and gender-specific differences.Whole exome sequencing is an efficient, sensitive and specific method for determining the genetic cause of short-rib thoracic dystrophies.Defining the phenotype in congenital disorder of glycosylation due to ALG1 mutations.MED20 mutation associated with infantile basal ganglia degeneration and brain atrophy.Hidden mutations in Cornelia de Lange syndrome limitations of sanger sequencing in molecular diagnostics.Chondroitin Sulfate N-acetylgalactosaminyltransferase-1 (CSGalNAcT-1) Deficiency Results in a Mild Skeletal Dysplasia and Joint Laxity.Severe speech delay as the presenting symptom of guanidinoacetate methyltransferase deficiency.Coexistence ofKCNV2associated cone dystrophy with supernormal rod electroretinogram andMFRPrelated oculopathy in a Turkish familyManifestation of hawkinsinuria in a patient compound heterozygous for hawkinsinuria and tyrosinemia IIICSGALNACT1-congenital disorder of glycosylation: A mild skeletal dysplasia with advanced bone ageNovel PCNT variants in MOPDII with attenuated growth restriction and pachygyria
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P50
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Julia Vodopiutz
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Julia Vodopiutz
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Julia Vodopiutz
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Julia Vodopiutz
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Julia Vodopiutz
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Julia Vodopiutz
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Julia Vodopiutz
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Julia Vodopiutz
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Julia Vodopiutz
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P106
P21
P31
P496
0000-0002-8087-7026