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Search for publications relevant for "autosomal recessive"
autosomal recessive
Publication
Class
Person
Publication
Programmes
publication
Autosomal recessive and X-linked ataxia
2007 |
Second Faculty of Medicine
publication
Genotype phenotype spectrum of PYCR1-related autosomal recessive cutis laxa
2013 |
Second Faculty of Medicine
publication
Severe neurological outcomes after very early bilateral nephrectomies in patients with autosomal recessive polycystic kidney disease (ARPKD)
2020 |
Second Faculty of Medicine
publication
Lifetime risk of autosomal recessive neurodegeneration with brain iron accumulation (NBIA) disorders calculated from genetic databases
2022 |
First Faculty of Medicine
publication
Case report: Severe hypertension-induced priapism in an infant with unrecognized autosomal recessive polycystic kidney disease
2023 |
Second Faculty of Medicine, Central Library of Charles University
publication
Molecular genetic analysis of PKHD1 by next-generation sequencing in Czech families with autosomal recessive polycystic kidney disease
2015 |
Second Faculty of Medicine, First Faculty of Medicine
publication
Design of two ongoing clinical trials of tolvaptan in the treatment of pediatric patients with autosomal recessive polycystic kidney disease
2023 |
Second Faculty of Medicine
publication
Ambulatory blood pressure and hypertension control in children with autosomal recessive polycystic kidney disease: clinical experience from two central European tertiary centres
2022 |
Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport
publication
Autosomal recessive ethnical diseases of Czech Roma
2006 |
Second Faculty of Medicine
publication
Autosomal Recessive and Dominant Polycystic Kidney Disease
1999 |
Second Faculty of Medicine, First Faculty of Medicine
publication
Genotype/phenotype correlation in autosomal recessive lamellar ichthyosis
1998 |
Second Faculty of Medicine
publication
Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD)
2005 |
Second Faculty of Medicine
publication
Genotype phenotype spectrum of PYCR1-related autosomal recessive cutis laxa
2013 |
Publication without faculty affiliation
publication
Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic
2014 |
Second Faculty of Medicine
publication
ROR2 gene mutation of autosomal recessive Robinow-syndrome
Publication without faculty affiliation
publication
Recent progress of the ARegPKD registry study on autosomal recessive polycystic kidney disease
2017 |
Second Faculty of Medicine
publication
Familial microcephaly with normal intelligence, immunodeficiency, and risk for lymphoreticular malignancies: A new autosomal recessive disorder
1985 |
Second Faculty of Medicine
publication
Premature chromosome condensation in humans associated with microcephaly and mental retardation: A novel autosomal recessive condition
2002 |
Central Library of Charles University
publication
Risk Factors for Early Dialysis Dependency in Autosomal Recessive Polycystic Kidney Disease
2018 |
Second Faculty of Medicine
publication
Molecular genetic testing in patients with autosomal recessive non syndromic hearing loss and deafness
2003 |
Second Faculty of Medicine
publication
Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome
2007 |
Second Faculty of Medicine
publication
Identification, by homozygosity mapping, of a novel locus for autosomal recessive congenital ichthyosis on chromosome 17p, and evidence for further genetic heterogeneity
2001 |
Central Library of Charles University
publication
Kidney Versus Combined Kidney and Liver Transplantation in Young People With Autosomal Recessive Polycystic Kidney Disease: Data From the European Society for Pediatric Nephrology/European Renal Association-European Dialysis and Transplant (ESPN/ERA-EDTA) Registry
2016 |
Second Faculty of Medicine
publication
A founder COL4A4 pathogenic variant resulting in autosomal recessive Alport syndrome accounts for most genetic kidney failure in Romani people
2023 |
Second Faculty of Medicine, Central Library of Charles University, Faculty of Medicine in Pilsen, Third Faculty of Medicine
publication
Kidney concentrating capacity in children with autosomal recessive polycystic kidney disease is linked to glomerular filtration and hypertension
2023 |
Second Faculty of Medicine
publication
Diagnostic exome sequencing in early-onset Parkinson's disease confirms VPS13C as a rare cause of autosomal-recessive Parkinson's disease
2018 |
First Faculty of Medicine
publication
Refining genotype-phenotype correlations in 304 patients with autosomal recessive polycystic kidney disease and PKHD1 gene variants
2021 |
Second Faculty of Medicine
publication
A novel variant of C12orf4 in a consanguineous Armenian family confirms the etiology of autosomal recessive intellectual disability type 66 with delineation of the phenotype
2019 |
Second Faculty of Medicine, First Faculty of Medicine
publication
Autosomal recessive congenital total Lipodystrophy of the Berardinelli-Seip type: clinical features in 15 new patients
1995 |
Second Faculty of Medicine
publication
Autosomal recessive hereditary spastic paraplegia type SPG35 due to a novel variant in the FA2H gene in a Czech patient
2019 |
Second Faculty of Medicine