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Search Results - Mazurova, Stella
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Fatal neonatal nephrocutaneous syndrome in 18 Roma children with EGFR deficiency
by
Mazurova, Stella
,
Tesarova, Marketa
,
Zeman, Jiri
,
Stranecky, Viktor
,
Hansikova, Hana
,
Baxova, Alica
,
Giertlova, Maria
,
Lastuvkova, Jana
,
Chovanova, Vanda
,
Rusnakova, Simona
,
Knapkova, Maria
,
Minarik, Gabriel
,
Honzik, Tomas
,
Magner, Martin
Published in
Journal of dermatology
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Thymidine kinase 2 and alanyl-tRNA synthetase 2 deficiencies cause lethal mitochondrial cardiomyopathy: case reports and review of the literature
by
Mazurova, Stella
,
Magner, Martin
,
Kucerova-Vidrova, Vendula
,
Vondrackova, Alzbeta
,
Stranecky, Viktor
,
Pristoupilova, Anna
,
Zamecnik, Josef
,
Hansikova, Hana
,
Zeman, Jiri
,
Tesarova, Marketa
,
Honzik, Tomas
Published in
Cardiology in the young
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TMEM70 deficiency: long-term outcome of 48 patients
by
Magner, Martin
,
Dvorakova, Veronika
,
Tesarova, Marketa
,
Mazurova, Stella
,
Hansikova, Hana
,
Zahorec, Martin
,
Brennerova, Katarina
,
Bzduch, Vladimir
,
Spiegel, Ronen
,
Horovitz, Yoseph
,
Mandel, Hanna
,
Eminoğlu, Fatma Tuba
,
Mayr, Johannes Adalbert
,
Koch, Johannes
,
Martinelli, Diego
,
Bertini, Enrico
,
Konstantopoulou, Vassiliki
,
Smet, Joél
,
Rahman, Shamima
,
Broomfield, Alexander
,
Stojanović, Vesna
,
Dionisi-Vici, Carlo
,
van Coster, Rudy
,
Morava-Kozicz, Eva
,
Sperl, Wolfgang
,
Zeman, Jiri
,
Honzik, Tomas
Published in
Journal of inherited metabolic disease
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Detailed Phenotype of GLA Variants Identified by the Nationwide Neurological Screening of Stroke Patients in the Czech Republic
by
Reková, Petra
,
Dostálová, Gabriela
,
Kemlink, David
,
Paulasová Schwabová, Jaroslava
,
Dubská, Zora
,
Vaneckova, Manuela
,
Mašek, Martin
,
Kodet, Ondřej
,
Poupětová, Helena
,
Mazurová, Stella
,
Rajdova, Aneta
,
Vlckova, Eva
,
Táboříková, Alena
,
Fafejtová, Štěpánka
,
Nevsimalova, Miroslava
,
Linhart, Aleš
,
Tomek, Aleš
Published in
Journal of clinical medicine
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Novel FBN1 gene mutation and maternal germinal mosaicism as the cause of neonatal form of Marfan syndrome
by
Šípek Jr, Antonín
,
Grodecká, Lucie
,
Baxová, Alice
,
Cibulková, Petra
,
Dvořáková, Magdaléna
,
Mazurová, Stella
,
Magner, Martin
,
Zeman, Jiří
,
Honzík, Tomáš
,
Freiberger, Tomáš
Published in
American journal of medical genetics. Part A
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COL1A2 gene analysis in a Czech osteogenesis imperfecta patient: a candidate novel mutation in a patient affected by osteogenesis imperfecta type 3
by
Hrušková, Lucie
,
Mazura, Ivan
,
Marik, Ivo
,
Mazurova, Stella
,
Martasek, Pavel
Published in
Advances in genomics and genetics
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COLIA2 gene analysis in a Czech osteogenesis imperfecta patient: a candidate novel mutation in a patient affected by osteogenesis imperfecta type 3
by
Hruskova, Lucie
,
Marik, Ivo
,
Mazurova, Stella
,
Martasek, Pavel
,
Mazura, Ivan
Published in
Advances in genomics and genetics
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Erratum to: TMEM70 deficiency: long-term outcome of 48 patients
by
Magner, Martin
,
Dvorakova, Veronika
,
Tesarova, Marketa
,
Mazurova, Stella
,
Hansikova, Hana
,
Zahorec, Martin
,
Brennerova, Katarina
,
Bzduch, Vladimir
,
Spiegel, Ronen
,
Horovitz, Yoseph
,
Mandel, Hanna
,
Eminoğlu, Fatma Tuba
,
Mayr, Johannes Adalbert
,
Koch, Johannes
,
Martinelli, Diego
,
Bertini, Enrico
,
Konstantopoulou, Vassiliki
,
Smet, Joél
,
Rahman, Shamima
,
Broomfield, Alexander
,
Stojanović, Vesna
,
Dionisi-Vici, Carlo
,
van Coster, Rudy
,
Morava, Eva
,
Sperl, Wolfgang
,
Zeman, Jiri
,
Honzik, Tomas
Published in
Journal of inherited metabolic disease
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