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hypoplasia
Publication
Class
Person
Publication
Programmes
publication
Agenesis, Aplasia and Hypoplasia of the Internal Carotid Artery
2009 |
First Faculty of Medicine
publication
ATAD3A-related pontocerebellar hypoplasia: new patients and insights into phenotypic variability
2023 |
First Faculty of Medicine
publication
Congenital internal carotid artery hypoplasia: A systematic review
2023 |
Central Library of Charles University, First Faculty of Medicine, Faculty of Physical Education and Sport
publication
Secondary pulmonary hypoplasia associated with calcified Meckel's diverticulum with osseous metaplasia
2021 |
Faculty of Medicine in Pilsen
publication
Midface distraction in patients with cleft palate
2005 |
Second Faculty of Medicine
publication
Pontocerebellar hypoplasia type 1 Clinical spectrum and relevance of EXOSC3 mutations
2013 |
Second Faculty of Medicine
publication
Hypoplasia of trachea with tracheal bronchus as a complication of surgical correction of tetralogy of Fallot
2004 |
Second Faculty of Medicine
publication
Hypoplasia of the posterior mitral leaflet - Are we familiar with it?
2021 |
Third Faculty of Medicine
publication
Homozygous EXOSC3 Mutation c.92G -> C, p.G31A is a Founder Mutation Causing Severe Pontocerebellar Hypoplasia Type 1 Among the Czech Roma
2013 |
Second Faculty of Medicine
publication
Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia
2015 |
Second Faculty of Medicine
publication
Hypoplasia a hyperplasia of the kidney
2003 |
First Faculty of Medicine
publication
Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration
2012 |
Second Faculty of Medicine
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
Congenital Disorders of Glycosylation Type Ia: Clinical, Biochemical and Molecular Analyses in Two Siblings with Cerebellar Hypoplasia
2003 |
First Faculty of Medicine
publication
Two new fetal procedures for experimental left ventricular hypoplasia
Publication without faculty affiliation
publication
The impact of using new and conventional methods for the age-at-death estimation in a Czech medieval population (Mikulcice, 9th-10th century): the relationship between age-at-death and linear enamel hypoplasia
2020 |
Faculty of Science
publication
Iris heterochromia, optic nerve pit, orbital cyst, renal hypoplasia
2007 |
First Faculty of Medicine
publication
A new human disease of CNS was described
2014 |
First Faculty of Medicine
publication
Goltz-Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap
2009 |
Second Faculty of Medicine
publication
Clinical findings in family with aniridia due the PAX6 mutation
2014 |
Central Library of Charles University
publication
Osteodistraction of the Mandible: Preliminary Report
2000 |
Second Faculty of Medicine
publication
On the problem of disorders in the formation of hard dental tissues and teeth eruption
2010 |
Central Library of Charles University
publication
On the problem of disorders in the formation of hard dental tissues and teeth eruption
2010 |
Faculty of Medicine in Pilsen
publication
Application of "banana cochleostomy" and looped electrode insertion for cochlear implantation in children with common cavity malformation and cystic forms of cochlear hypoplasia
2018 |
Second Faculty of Medicine
publication
A boy with adrenal insufficiency and DAX-1 gene defect
2001 |
Third Faculty of Medicine
publication
ALG3-CDG: a patient with novel variants and review of the genetic and ophthalmic findings
2021 |
First Faculty of Medicine
publication
Dental health and lifestyle in four early mediaeval juvenile populations: Comparisons between urban and rural individuals, and between coastal and inland settlements
2010 |
First Faculty of Medicine
publication
HLHS: Power of the Chick Model
2022 |
First Faculty of Medicine
publication
Chronic lung disease developed in early childhood
2021 |
First Faculty of Medicine
publication
Current options of prenatal diagnosis in congential diaphragmatic hernia
2009 |
Central Library of Charles University, Second Faculty of Medicine, Third Faculty of Medicine