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Search for publications relevant for "hypotonia"
hypotonia
Publication
Class
Person
Publication
Programmes
publication
Hypotonie děložní
2003 |
First Faculty of Medicine
publication
Anaesthetic management of the hypotonic uterus
2015 |
First Faculty of Medicine
publication
Congenital disorders of glycosylation (CDG Syndrome) in fourteen children with psychomotor delay, hypotonia, strabismus and other various organ involvement
+1
Publication without faculty affiliation
publication
Nationwide screening of Pompe disease in patients with unspecified muscle weakness, hyperCKemia, and respiratory insufficiency
2018 |
Second Faculty of Medicine
publication
Peripaital life-threatening hemorrhage - Interdisciplinary consensus opinion
2012 |
Faculty of Medicine in Hradec Králové, Central Library of Charles University, First Faculty of Medicine, Second Faculty of Medicine
publication
Preterm newborn with lethal congenital contracture syndrome
2021 |
Publication without faculty affiliation
publication
De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia
2019 |
Second Faculty of Medicine
publication
Suprachoroidal hemorrhage without surgery association
2011 |
Faculty of Medicine in Hradec Králové
publication
Clinical presentation and metabolic consequences in 40 breastfed infants with nutritional vitamin B-12 deficiency - What have we learned?
2010 |
First Faculty of Medicine
publication
Congenital Myasthenia as a Cause of Respiratory Failure in two Infants and a Toddler - Case Reports
2012 |
Second Faculty of Medicine
publication
An inherited 2q13 deletion in a patient with Marfan syndrome
Publication without faculty affiliation
publication
Homozygosity mapping in a family with microcephaly, mental retardation, and short stature to a Cohen syndrome region on 8q21.3-8q22.1: Redefining a clinical entity
2000 |
Central Library of Charles University
publication
Neuroophthalmlogic examination of children in pre-school year
2013 |
First Faculty of Medicine
publication
Shprintzen-Goldbergův syndrom
2018 |
Second Faculty of Medicine
publication
Congenital muscular dystrophies
+1
2012 |
Second Faculty of Medicine
publication
Lethargic infant: severe deficiency of vitamin B12
2016 |
Second Faculty of Medicine
publication
Girl with congenital disorder of glycosylation - case report
2009 |
First Faculty of Medicine
publication
Girl with congenital disorder of glycosylation - case report
2009 |
Publication without faculty affiliation
publication
Prader-Willi syndrome
2011 |
Faculty of Medicine in Hradec Králové
publication
Congenital myasthenic sydromes
2010 |
First Faculty of Medicine
publication
Late onset of inherited urea cycle disorder - ornithine transcarbamoylase deficiency
2016 |
First Faculty of Medicine
publication
Metabolic myopathies
2022 |
First Faculty of Medicine
publication
Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation
2010 |
First Faculty of Medicine
publication
Laterality in children: cerebellar dominance, handedness, footedness and hair whorl
2009 |
First Faculty of Medicine
publication
Delece 2q13 u pacienta s Marfanovým syndromem
2017 |
First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport, Faculty of Science
publication
Loss of function of Sco1 and its interaction with cytochrome c oxidase
2009 |
First Faculty of Medicine
publication
Congenital hypomyelination in conjunction with de-novo mutation in the gene for the peripheral myelin protein 22 - the first confirmed case in the CR and review of the literature
2002 |
First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport
publication
Cytochrome C oxidase deficiency in childhood
2009 |
First Faculty of Medicine