R. Pourová

发表

Spectrum and Frequency of SLC26A4 Mutations Among Czech Patients with Early Hearing Loss with and without Enlarged Vestibular Aqueduct (EVA)

P. Seeman, J. Astl, A. Murgia, 2010, Annals of human genetics.

Pendred syndrome among patients with congenital hypothyroidism detected by neonatalscreening: identification of two novel PDS/SLC26A4 mutations

O. Cinek, J. Lebl, J. Zapletalová, 2008, European Journal of Pediatrics.

Long term follow‐up in a patient with a de novo microdeletion of 14q11.2 involving CHD8

Z. Sedlacek, E. Seemanová, M. Hancarova, 2015, American journal of medical genetics. Part A.

Under the mask of Kabuki syndrome: Elucidation of genetic-and phenotypic heterogeneity in patients with Kabuki-like phenotype.

M. Macek, V. Moslerová, M. Havlovicová, 2018, European journal of medical genetics.

Identification of likely associations between cerebral folate deficiency and complex genetic‐ and metabolic pathogenesis of autism spectrum disorders by utilization of a pilot interaction modeling approach

M. Macek, M. Havlovicová, J. Geryk, 2017, Autism research : official journal of the International Society for Autism Research.

Deﬁning the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia

Steven P. Miller, D. Segal, J. Volkmann, 2020 .

Co-designing models for the communication of genomic results for rare diseases: a comparative study in the Czech Republic and the United Kingdom

J. Clayton-Smith, C. Patch, M. Macek, 2022, Journal of Community Genetics.

The Gen-Equip Project: evaluation and impact of genetics e-learning resources for primary care in six European languages

M. Macek, H. Skirton, M. Cornel, 2018, Genetics in Medicine.

Molecular genetic analysis in 14 Czech Kabuki syndrome patients is confirming the utility of phenotypic scoring

M. Macek, A. Maver, M. Havlovicová, 2016, Clinical genetics.

Long-term anatomical and functional outcomes of surgical treatment of retinal complications in children and adolescents with Stickler syndrome between 2004 and 2021

G. Mahelková, M. Burdová, D. Dotřelová, 2023, Graefe's Archive for Clinical and Experimental Ophthalmology.

Hereditary hyperferritinemia-cataract syndrome in three Czech families: molecular genetic testing and clinical implications.

J. Moravíková, T. Honzík, Eva Jadvidzakova, 2020, Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus.

Expanded DMPK repeats in dizygotic twins referred for diagnosis of autism versus absence of expanded DMPK repeats at screening of 330 children with autism

M. Trková, Z. Sedlacek, M. Havlovicová, 2016, Neuropsychiatric disease and treatment.

The Gen-Equip Project: evaluation and impact of genetics e-learning resources for primary care in six European languages

M. Macek, H. Skirton, M. Cornel, 2018, Genetics in Medicine.