检索结果 - Petra Dušátková
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1
High Prevalence of Growth Plate Gene Variants in Children With Familial Short Stature Treated With GH 由 Lukáš Plachý, Veronika Strakova, Lenka Elblová, Barbora Obermannová, Stanislava Koloušková, Marta Šnajderová, D Zemková, Petra Dušátková, Zdenĕk Šumnı́k, Jan Lebl, Štěpánka Průhová
出版 2019Artigo -
2
The Genetic Landscape of Children Born Small for Gestational Age with Persistent Short Stature 由 Ledjona Toni, Lukáš Plachý, Petra Dušátková, Shenali Anne Amaratunga, Lenka Elblová, Zdenĕk Šumnı́k, Stanislava Kolouskova, Marta Šnajderová, Barbora Obermannová, Štěpánka Průhová, Jan Lebl
出版 2023Artigo -
3
<i>NPR2</i> Variants Are Frequent among Children with Familiar Short Stature and Respond Well to Growth Hormone Therapy 由 Lukáš Plachý, Petra Dušátková, Klára Maratová, Lenka Petruželková, D Zemková, Lenka Elblová, Petra Kučerová, Ledjona Toni, Stanislava Koloušková, Marta Šnajderová, Zdenĕk Šumnı́k, Jan Lebl, Štěpánka Průhová
出版 2020Artigo -
4
The Common p.R114W <i>HNF4A</i> Mutation Causes a Distinct Clinical Subtype of Monogenic Diabetes 由 Thomas W. Laver, Kevin Colclough, Maggie Shepherd, Kashyap Patel, Jayne Houghton, Petra Dušátková, Štěpánka Průhová, Andrew D. Morris, Colin N. A. Palmer, Mark I. McCarthy, Sian Ellard, Andrew T. Hattersley, Michael N. Weedon
出版 2016Artigo -
5
High Incidence of Heterozygous<i>ABCC8</i>and<i>HNF1A</i>Mutations in Czech Patients With Congenital Hyperinsulinism 由 Klára Roženková, Jana Malíková, Azizun Nessa, Lenka Dušátková, Lise Bjørkhaug, Barbora Obermannová, Petra Dušátková, Jitka Kytnarová, Ingvild Aukrust, Laeya A. Najmi, Blanka Rypáčková, Zdenĕk Šumnı́k, Jan Lebl, Pål R. Njølstad, Khalid Hussain, Štěpánka Průhová
出版 2015Artigo -
6
Genesis of two most prevalent PROP1 gene variants causing combined pituitary hormone deficiency in 21 populations 由 Petra Dušátková, Roland Pfäffle, Milton R. Brown, Natallia Akulevich, Ivo J.P. Arnhold, Maria Kalina, K. Kot, Ciril Kržišnik, Manuel C. Lemos, Jana Malíková, Rūta Navardauskaitė, Barbora Obermannová, Zuzana Pribilincová, Ágnes Sallai, Gordana Stipančić, Rasa Verkauskienė, Ondřej Cinek, Werner Blum, John S. Parks, Frédéric Austerlitz, Jan Lebl
出版 2015Artigo
相关主题
Biology
Endocrinology
Genetics
Internal medicine
Medicine
Gene
Mutation
Short stature
Context (archaeology)
Growth hormone
Hormone
Idiopathic short stature
Paleontology
Pediatrics
Phenotype
Allele
Allele frequency
Bioinformatics
Cohort
Congenital hyperinsulinism
Diabetes mellitus
Environmental health
Etiology
Exome sequencing
Genetic heterogeneity
Genotype
Gestational age
Growth hormone treatment
HNF1A
Haplotype