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dominant inheritance
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publication
Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease)
2016 |
First Faculty of Medicine
publication
Cranial nerves palsy as an initial feature of an early onset distal hereditary motor neuropathy - A new distal hereditary motor neuropathy phenotype
2009 |
Second Faculty of Medicine
publication
What we might expect in hereditary angioedema with C1 inhibitor deficiency treatment?
2017 |
Second Faculty of Medicine
publication
Monogenic forms of diabetes mellitus in children and adolescents
2009 |
Third Faculty of Medicine
publication
Blue rubber bleb nevus
+1
2008 |
Publication without faculty affiliation
publication
Autosomal dominant tubulointerstitial kidney disease: of names and genes
2014 |
First Faculty of Medicine
publication
Blue rubber bleb naevus syndrome: the role of capsule endoscopy and intra-operative enteroscopy. Report of two cases.
Publication without faculty affiliation
publication
Blue rubber bleb naevus syndrome: the role of capsule endoscopy and intra-operative enteroscopy. Report of two cases
Publication without faculty affiliation
publication
A new approach to blue rubber bleb nevus syndrome: the role of capsule endoscopy and intra-operative enteroscopy
2007 |
Faculty of Medicine in Hradec Králové
publication
A new approach to blue rubber bleb nevus syndrome: the role of capsule endoscopy and intra-operative enteroscopy
2007 |
First Faculty of Medicine
publication
Implication of molecular genetic examination in a three generational family with multiple endocrine neoplasia type 2A
2007 |
Faculty of Medicine in Hradec Králové
publication
Implication of molecular genetic examination in a three generational family with multiple endocrine neoplasia type 2A
2007 |
Faculty of Medicine in Hradec Králové, Central Library of Charles University
publication
Implication of molecular genetic examination in a three generational family with multiple endocrine neoplasia type 2A
2007 |
Faculty of Medicine in Hradec Králové, Central Library of Charles University, Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport
publication
Darier disease complicated by severe Kaposi varicelliform eruption resistant to acyclovir
2020 |
Third Faculty of Medicine
publication
Implication of molecular genetic examination in a three generational family with multiple endocrine neoplasia type 2A
2007 |
First Faculty of Medicine
publication
Implication of molecular genetic examination in a Ihree generational family with multiple endoerine neoplasia type 2A
2007 |
Second Faculty of Medicine, First Faculty of Medicine
publication
What is your diagnosis? Multiple rhabdomyoma of the heart and disorder of neuronal migration in the brain (precursor to cortical tuber) as a part ot the tuberous sclerosis syndrome
2011 |
Second Faculty of Medicine
publication
Steatocystoma multiplex: keratin 17-the key player?
2012 |
Third Faculty of Medicine
publication
Paroxysmal Kinesigenic Dyskinesia - a Case Report of a Young Woman with Alternating Hemidystonia
2009 |
Second Faculty of Medicine
publication
Monogenic glucokinase diabetes and pregnancy: a case study
2015 |
Faculty of Medicine in Pilsen
publication
Therapy of MODY in general practitioner's surgery
2018 |
Third Faculty of Medicine, Second Faculty of Medicine
publication
MODY - Maturity onset diabetes of the young
1999 |
Third Faculty of Medicine
publication
Autosomal dominant tubulointerstitial kidney disease: A review
2022 |
First Faculty of Medicine
publication
Bicuspid aortic valve - ethiopathogenesis and natural history
2011 |
Faculty of Medicine in Hradec Králové
publication
MODY diabetes: what should we know for proper diagnostics and treatment?
2012 |
Second Faculty of Medicine
publication
Differential diagnosis of hyperglycemia in children and adolescent
2005 |
Third Faculty of Medicine
publication
Renal cell carcinoma - current practice in 2019
2020 |
First Faculty of Medicine
publication
The newly detected mutations in the RET proto-oncogene in exon 16 as a cause of sporadic medullary thyroid carcinoma
2003 |
Second Faculty of Medicine
publication
Massively Parallel Sequencing Detected a Mutation in the MFN2 Gene Missed by Sanger Sequencing Due to a Primer Mismatch on an SNP Site
2016 |
Second Faculty of Medicine