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Mutations in ANTXR1 Cause GAPO Syndrome

American journal of human genetics, 2013-05, Vol.92 (5), p.792-799

2013

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Novel FBN1 gene mutation and maternal germinal mosaicism as the cause of neonatal form of Marfan syndrome

American journal of medical genetics. Part A, 2014-06, Vol.164A (6), p.1559-1564

2014

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Age Dependent Progression of Multiple Epiphyseal Dysplasia and Pseudoachondroplasia Due to Heterozygous Mutations in COMP Gene

Prague medical report, 2020, Vol.121 (3), p.153-162

2020

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The Age Dependent Progression of Hajdu-Cheney Syndrome in Two Families

Prague medical report, 2018-01, Vol.119 (4), p.156-164

2018

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Attenuated Type of Asphyxiating Thoracic Dysplasia due to Mutations in DYNC2H1 Gene

Prague medical report, 2019, Vol.120 (4), p.124-130

2019

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Genetic variations in NADPH-CYP450 oxidoreductase in a Czech Slavic cohort

Pharmacogenomics, 2015-03, Vol.16 (3), p.205-215

2015

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Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities

Genetics in medicine, 2021-07, Vol.23 (7), p.1234-1245

2021

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Commentary: preimplantation genetic diagnosis

Klinická onkologie, 2009, Vol.22 Suppl, p.S75-S75

2009

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Post-mortem magnetic resonance imaging and its irreplaceable role in determining CNS malformation (hydranencephaly) – Case report

Brain & development (Tokyo. 1979), 2010-05, Vol.32 (5), p.417-420

2010

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Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms

Journal of human genetics, 2007-04, Vol.52 (4), p.342-348

2007

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Pierpont syndrome due to mutation c.1337A>G in TBL1XR1 gene

Clinical dysmorphology, 2022-07, Vol.31 (3), p.145-148

2022

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Mutation analysis of TRPS1 gene including core promoter, 5′UTR, and 3′UTR regulatory sequences with insight into their organization

Clinica chimica acta, 2017-01, Vol.464, p.30-36

2017

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Analysis of common SHOX gene sequence variants and ∼4.9-kb PAR1 deletion in ISS patients

Journal of genetics, 2014-08, Vol.93 (2), p.505-508

2014

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APOE epsilon 4: A Potential Modulation Factor in Rett Syndrome

Journal of child neurology, 2010-05, Vol.25 (5), p.546-550

2010

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Mutation analysis of TRPS1 gene including core promoter, 5'UTR, and 3'UTR regulatory sequences with insight into their organization

Clinica chimica acta, 2017-01, Vol.464, p.30-36

2017

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APOE ε4: A Potential Modulation Factor in Rett Syndrome

Journal of child neurology, 2010-05, Vol.25 (5), p.546-550

2010

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Is it always possible to determine a diagnosis? Prenatal ultrasonography, post mortem magnetic resonance, autopsy

Neuro-endocrinology letters, 2010, Vol.31 (2), p.178-180

2010

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Cryptic chromosomal rearrangements in children with idiopathic mental retardation in the Czech population

Genetic testing and molecular biomarkers, 2011-09, Vol.15 (9), p.607-611

2011

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APOE epsilon4: a potential modulation factor in Rett syndrome

Journal of child neurology, 2010-05, Vol.25 (5), p.546-550

2010

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FGFR2 gene mutation (Tyr375Cys) in a new case of Beare-Stevenson syndrome

American journal of medical genetics, 1998-04, Vol.76 (4), p.362-364

1998

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Mutations in ANTXR1 Cause GAPO Syndrome

Novel FBN1 gene mutation and maternal germinal mosaicism as the cause of neonatal form of Marfan syndrome

Age Dependent Progression of Multiple Epiphyseal Dysplasia and Pseudoachondroplasia Due to Heterozygous Mutations in COMP Gene

The Age Dependent Progression of Hajdu-Cheney Syndrome in Two Families

Attenuated Type of Asphyxiating Thoracic Dysplasia due to Mutations in DYNC2H1 Gene

Genetic variations in NADPH-CYP450 oxidoreductase in a Czech Slavic cohort

Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities

Commentary: preimplantation genetic diagnosis

Post-mortem magnetic resonance imaging and its irreplaceable role in determining CNS malformation (hydranencephaly) – Case report

Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms

Pierpont syndrome due to mutation c.1337A>G in TBL1XR1 gene

Mutation analysis of TRPS1 gene including core promoter, 5′UTR, and 3′UTR regulatory sequences with insight into their organization

Analysis of common SHOX gene sequence variants and ∼4.9-kb PAR1 deletion in ISS patients

APOE epsilon 4: A Potential Modulation Factor in Rett Syndrome

Mutation analysis of TRPS1 gene including core promoter, 5'UTR, and 3'UTR regulatory sequences with insight into their organization

APOE ε4: A Potential Modulation Factor in Rett Syndrome

Is it always possible to determine a diagnosis? Prenatal ultrasonography, post mortem magnetic resonance, autopsy

Cryptic chromosomal rearrangements in children with idiopathic mental retardation in the Czech population

APOE epsilon4: a potential modulation factor in Rett syndrome

FGFR2 gene mutation (Tyr375Cys) in a new case of Beare-Stevenson syndrome

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