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Search for publications relevant for "gene defects"
gene defects
Publication
Class
Person
Publication
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publication
Auxological and endocrine phenotype in a population-based cohort of patients with PROP1 gene defects
2005 |
First Faculty of Medicine, Faculty of Physical Education and Sport, Third Faculty of Medicine
publication
A boy with adrenal insufficiency and DAX-1 gene defect
2001 |
Third Faculty of Medicine
publication
Natural growth and response to growth hormone therapy in 18 czech patients with a PROP1 gene defect
Publication without faculty affiliation
publication
Natural growth and response to growth hormone therapy in a population - based cohort of 18 patients with PROP1 gene defect
Publication without faculty affiliation
publication
Mutations and Pituitary Morphology in a Series of 82 Patients with PROP1 Gene Defects
2011 |
Second Faculty of Medicine
publication
SHOX gene defects and selected dysmorphic signs in patients of idiopathic short stature and Léri-Weill dyschondrosteosis
2012 |
Faculty of Science, First Faculty of Medicine
publication
SHOX gene defects and selected dysmorphic signs in patients of idiopathic short stature and Leri-Weill dyschondrosteosis
2012 |
First Faculty of Medicine
publication
Mutations and polymorphisms porphobilinogen deaminase gene: Defects which result in acute intermittent porphyria: May 2006 update with the list of mutations in Slavic population
2006 |
First Faculty of Medicine
publication
Mutations and polymorphisms porphobilinogen deaminase gene: Defects which result in acute intermittent porphyria: May 2006 update with the list of mutations in Slavic population
2006 |
Faculty of Physical Education and Sport
publication
Characterization of 13 Novel Band 3 Gene Defects in Hereditary Spherocytosis With Band 3 Deficiency
1996 |
Faculty of Medicine in Hradec Králové
publication
Recurrent Microdeletions at Xq27.3-Xq28 and Male Infertility: A Study in the Czech Population
2016 |
First Faculty of Medicine
publication
Disorders of sex differentiation: genes responsible for development of genital system and final phenotype
2009 |
Second Faculty of Medicine
publication
anamnézy; defekt jednoho genu
2006 |
First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport, Third Faculty of Medicine, Central Library of Charles University
publication
Analysis of 31-year-old patient with SYNGAP1 gene defect points to importance of variants in broader splice regions and reveals developmental trajectory of SYNGAP1-associated phenotype: case report
2017 |
First Faculty of Medicine, Second Faculty of Medicine
publication
Six novel mutations in the GCK gene in MODY patients
2007 |
Third Faculty of Medicine
publication
Prevalence of PROP1 gene defects in a population-based cohort of patients with multiple pituitary hormone deficiency and their natural history of growth and response to growth hormone treatment
Publication without faculty affiliation
publication
Discovery of gene causing congenital anomalies of urinary tract
2013 |
First Faculty of Medicine
publication
The relationship of the expression of mismatch repair (MLH1, MSH2) proteins to colonic adenomas
2005 |
Faculty of Physical Education and Sport
publication
Detection of SHOX gene aberrations in routine diagnostic practice and evaluation of phenotype scoring form effectiveness
2017 |
First Faculty of Medicine
publication
Congenital myasthenic sydromes
2010 |
First Faculty of Medicine
publication
Monogenic forms of diabetes: they are more common than we have thought so far
2014 |
Second Faculty of Medicine
publication
Hemiplegic migraine
2017 |
Publication without faculty affiliation
publication
Pioglitazone
2007 |
First Faculty of Medicine
publication
Pitfalls and drawbacks in screening of congenital disorders of glycocylation
2004 |
First Faculty of Medicine
publication
Present International Projects in the Area of Diagnostics and Therapy of Cystic Fibrosis: Participation of Specialists from the Czech Republic into the Problem Solving
2008 |
First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport
publication
Congenital disorders of glycosylation: Still "hot" in 2020
2021 |
First Faculty of Medicine
publication
Whole-body magnetic resonance imaging in pediatric oncology - recommendations by the Oncology Task Force of the ESPR
2020 |
Second Faculty of Medicine
publication
Is genetic testing in children with growth hormone deficiency clinically justified?
2013 |
Second Faculty of Medicine
publication
Germline Variants of CYBA and TRPM4 Predispose to Familial Colorectal Cancer
2022 |
Faculty of Medicine in Pilsen
publication
Monogenic form of autoimmune diabetes as a part of dysregulation of immune system
2018 |
Second Faculty of Medicine