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Autosomal Recessive Inheritance
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publication
Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome
2007 |
Second Faculty of Medicine
publication
Homozygosity mapping of a second gene locus for hereditary combined deficiency of vitamin K-Dependent clotting factors (FMFD) to chromosome 16
2004 |
Central Library of Charles University
publication
Nijmegen Breakage Syndrome (NBS)
1999 |
Second Faculty of Medicine
publication
Polycystic kidney and hepatic disease with mental retardation and hand anomalies in three siblings
2009 |
Second Faculty of Medicine
publication
Louis-Bar Syndrome of Ataxia Telangiectasia in Consanguinous Family
2006 |
Second Faculty of Medicine
publication
Adult Form of Glutaric Aciduria Type II - Underdiagnosed Cause of Proximal Myopathy - a Case Report
2009 |
Second Faculty of Medicine
publication
Polymorphisms of TGF-beta 1 in CF patients
Publication without faculty affiliation
publication
Familial microcephaly with normal intelligence, immunodeficiency, and risk for lymphoreticular malignancies: A new autosomal recessive disorder
1985 |
Second Faculty of Medicine
publication
Cystic fibrosis
2021 |
Second Faculty of Medicine
publication
Acute cor pulmonale - current complications of cystic fibrosis
2021 |
Faculty of Medicine in Pilsen
publication
Homozygosity mapping of a second gene locus for hereditary combined deficiency of vitamin K-dependent clotting factors to the centromeric region of chromosome 16
2002 |
Central Library of Charles University
publication
Two novel pathogenic variants in KIAA1109 causing Alkuraya-Kučinskas syndrome in two Czech Roma brothers
2020 |
Second Faculty of Medicine
publication
Neonatal screening for congenital adrenal hyperplasia
1999 |
Third Faculty of Medicine
publication
Observational, retrospective study of a large cohort of patients with Niemann-Pick disease type C in the Czech Republic: a surprisingly stable diagnostic rate spanning almost 40 years
2014 |
First Faculty of Medicine
publication
HSMNR belongs to the most frequent types of hereditary neuropathy in the Czech Republic and is twice more frequent than HMSNL
2016 |
Second Faculty of Medicine
publication
Familial dysbetalipoproteinemia: known unknown
2022 |
First Faculty of Medicine
publication
Dubin-Johnson syndrome coinciding with colon cancer and atherosclerosis
2013 |
First Faculty of Medicine, Third Faculty of Medicine
publication
Mutations in the LMNA gene do not cause axonal CMT in Czech patients
2009 |
Second Faculty of Medicine
publication
Familial chylomicronemia: pathogenesis, clinical manifestations and case study
2018 |
First Faculty of Medicine
publication
Parental gonadal but not somatic mosaicism leading to de novo NFIX variants shared by two brothers with Malan syndrome
2019 |
Second Faculty of Medicine, First Faculty of Medicine
publication
SPG11: clinical and genetic features of seven Czech patients and literature review
2022 |
Second Faculty of Medicine, First Faculty of Medicine
publication
DFNB35 due to a novel mutation in the ESRRB gene in a Czech consanguineous family
2012 |
Second Faculty of Medicine, Central Library of Charles University
publication
Radiotherapy and radiosensitivity syndromes in DNA repair gene mutations
2022 |
First Faculty of Medicine
publication
Fukutinopathy as a rare cause of dilated cardiomyopathy and subclinical skeletal myopathy - a case report and review of cardiac involvement in skeletal muscle disease
2022 |
First Faculty of Medicine, Third Faculty of Medicine, Central Library of Charles University
publication
Phenylketonuria and its genetic background
2002 |
Third Faculty of Medicine
publication
Novel SBF2 mutations and clinical spectrum of Charcot-Marie-Tooth neuropathy type 4B2
2018 |
Second Faculty of Medicine
publication
The invaluable role of consanguinity in providing insight into paediatric endocrine conditions: Lessons learned from congenital hyperinsulinism, monogenic diabetes, and short stature
2022 |
Second Faculty of Medicine
publication
Genetic heterogeneity and minor CYP1B1 involvement in the molecular basis of primary congenital glaucoma in Gypsies
2008 |
Second Faculty of Medicine
publication
Early Detection of Bilateral Cataracts In Utero May Represent a Manifestation of Severe Congenital Disease
2016 |
Second Faculty of Medicine, First Faculty of Medicine
publication
Clinical, In Silico, and Experimental Evidence for Pathogenicity of Two Novel Splice Site Mutations in the SH3TC2 Gene
2012 |
Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport