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Search for publications relevant for "microdeletion"
microdeletion
Publication
Class
Person
Publication
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publication
Microdeletion Syndromes
2006 |
Second Faculty of Medicine
publication
Childhood overgrowth in patients with common NF1 microdeletions
2005 |
Second Faculty of Medicine
publication
Czech family confirms the new 1p36.13-1p36.12 microdeletion syndrome
2022 |
Second Faculty of Medicine
publication
Microdeletions of the Y Chromosome in Czech Males with Serious Reproductive Disorders
2003 |
Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport
publication
Monozygotic Twins with 17q21.31 Microdeletion Syndrome
2014 |
Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport
publication
Xp21 microdeletion syndrome: Severe cause of adrenal insufficiency, muscular dystrophy, plasma lipid disorder and developmental delay in a two-month-old child with failure to thrive
2012 |
Second Faculty of Medicine
publication
Recurrent Microdeletions at Xq27.3-Xq28 and Male Infertility: A Study in the Czech Population
2016 |
First Faculty of Medicine
publication
Relationship between Genotype and Phenotype in Patients with Microdeletion of Chromosome 22q11
2001 |
Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport
publication
Microdeletion Syndromes
2006 |
Publication without faculty affiliation
publication
Microdeletion Syndromes
2006 |
First Faculty of Medicine, Faculty of Physical Education and Sport
publication
Long Term Follow-Up in a Patient with a De Novo Microdeletion of 14q11.2 Involving CHD8
2015 |
Second Faculty of Medicine
publication
Anophthalmia, hearing loss, abnormal pituitary development and response to growth hormone therapy in three children with microdeletions of 14q22q23
2014 |
Second Faculty of Medicine
publication
Identification of a patient with intellectual disability and de novo 3.7 Mb deletion supports the existence of a novel microdeletion syndrome in 2p14-p15
2013 |
Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport
publication
A patient with de novo 0.45Mb deletion of 2p16.1: The role of BCL11A, PAPOLG, REL, and FLJ16341 in the 2p15-p16.1 microdeletion syndrome
2013 |
Second Faculty of Medicine
publication
Microdeletion 22q11: New FISH Probes Identify Different Deletion Types
1999 |
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
Two independent chromosomal rearrangements, a very small (550 kb) duplication of the 7q subtelomeric region and an atypical 17q11.2 (NF1) microdeletion, in a girl with neurofibromatosis
2007 |
Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport
publication
Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene
2013 |
First Faculty of Medicine
publication
Chromosomal Aberration in Inborn Cardiac Defects and their Diagnosis Using the FISH Method
1999 |
Second Faculty of Medicine
publication
BCL11A deletions result in fetal hemoglobin persistence and neurodevelopmental alterations
2015 |
Second Faculty of Medicine
publication
Mitochondrial DNA microdeletion 9204delAT in ATP6 gene in family with encephalopathy. Lactic Acidosis and ATP synthase deficiency
Publication without faculty affiliation
publication
Diminished synthesis of subunit a and altered function of ATP synthase due to mtDNA 2bp microdeletion TA at position 9205
Publication without faculty affiliation
publication
Patient with Williams-Beuren syndrome in paediatrician's office
2022 |
Faculty of Medicine in Pilsen, Third Faculty of Medicine
publication
Mutations in genes affecting fertility of men - current routine laboratory genetic diagnostics and searching for more DNA segments and genes influencing spermatogenesis
2016 |
First Faculty of Medicine
publication
Williams-Beuren syndrome
2000 |
Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport
publication
Diminished synthesis of subunit a (ATP6) and altered function of ATP synthase and cytochrome c oxidase due to the mtDNA 2bp microdeletion of TA at positions 9205 and 9206
2004 |
First Faculty of Medicine
publication
Diminished synthesis of subunit a (ATP6) and altered function of ATP synthase and cytochrome c oxidase due to the mtDNA 2bp microdeletion of TA at positions 9205 and 9206
2004 |
Faculty of Physical Education and Sport
publication
PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature
2018 |
Second Faculty of Medicine
publication
An inherited 2q13 deletion in a patient with Marfan syndrome
Publication without faculty affiliation
publication
Sleep in neurological and neurodevelopmental disorders
2017 |
First Faculty of Medicine