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Jacek Pilch

Showing results (11-20 of 29) with videos related to

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Neurogenetics|May 17, 2024
Next generation sequencing panel as an effective approach to genetic testing in patients with a highly variable phenotype of neuromuscular disordersWiktoria Radziwonik-Fraczyk, Ewelina Elert-Dobkowska, Marek Karpinski, et al.
Acta Biochimica Polonica|March 16, 2018
Mutations in the COL1A1 and COL1A2 genes associated with osteogenesis imperfecta (OI) types I or IIIAleksandra Augusciak-Duma, Joanna Witecka, Aleksander L Sieron, et al.
Neurologia I Neurochirurgia Polska|February 10, 2021
Nusinersen treatment of Spinal Muscular Atrophy Type 1 - results of expanded access programme in PolandSandra Modrzejewska, Katarzyna Kotulska, Ilona Kopyta, et al.
Molecular Genetics & Genomic Medicine|January 24, 2015
Ten new ATM alterations in Polish patients with ataxia-telangiectasiaMarta Joanna Podralska, Agnieszka Stembalska, Ryszard Ślęzak, et al.
Neurologia I Neurochirurgia Polska|May 26, 2025
Frequently observed polyneuropathy expands phenotypic spectrum of apparently pure autosomal dominant hereditary spastic paraplegiasIwona Stępniak, Maria Rakowicz, Wanda Lipczyńska-Łojkowska, et al.
Clinical Genetics|June 26, 2018
Evidence for HNRNPH1 being another gene for Bain type syndromic mental retardationJacek Pilch, Agnieszka A Koppolu, Anna Walczak, et al.
Science Advances|September 26, 2025
A sensory and motor neuropathy caused by a genetic variant of <i>NAMPT</i>Zhe Zhang, Jacek Pilch, Samuel Lundt, et al.
American Journal of Medical Genetics. Part A|July 12, 2011
Wolf-Hirschhorn syndrome due to pure and translocation forms of monosomy 4p16.1 → pterPiotr S Iwanowski, Barbara Panasiuk, Griet Van Buggenhout, et al.
Journal of the Neurological Sciences|December 17, 2015
Molecular spectrum of the SPAST, ATL1 and REEP1 gene mutations associated with the most common hereditary spastic paraplegias in a group of Polish patientsEwelina Elert-Dobkowska, Iwona Stepniak, Wioletta Krysa, et al.
Journal of Applied Genetics|May 13, 2021
Clinical characteristics of Polish patients with molecularly confirmed Mowat-Wilson syndromeAleksandra Jakubiak, Krzysztof Szczałuba, Magdalena Badura-Stronka, et al.
Pageof 3

Showing results (11-20 of 29) with videos related to

Sort By:
Pageof 3
Neurogenetics|May 17, 2024
Next generation sequencing panel as an effective approach to genetic testing in patients with a highly variable phenotype of neuromuscular disordersWiktoria Radziwonik-Fraczyk, Ewelina Elert-Dobkowska, Marek Karpinski, et al.
Acta Biochimica Polonica|March 16, 2018
Mutations in the COL1A1 and COL1A2 genes associated with osteogenesis imperfecta (OI) types I or IIIAleksandra Augusciak-Duma, Joanna Witecka, Aleksander L Sieron, et al.
Neurologia I Neurochirurgia Polska|February 10, 2021
Nusinersen treatment of Spinal Muscular Atrophy Type 1 - results of expanded access programme in PolandSandra Modrzejewska, Katarzyna Kotulska, Ilona Kopyta, et al.
Molecular Genetics & Genomic Medicine|January 24, 2015
Ten new ATM alterations in Polish patients with ataxia-telangiectasiaMarta Joanna Podralska, Agnieszka Stembalska, Ryszard Ślęzak, et al.
Neurologia I Neurochirurgia Polska|May 26, 2025
Frequently observed polyneuropathy expands phenotypic spectrum of apparently pure autosomal dominant hereditary spastic paraplegiasIwona Stępniak, Maria Rakowicz, Wanda Lipczyńska-Łojkowska, et al.
Clinical Genetics|June 26, 2018
Evidence for HNRNPH1 being another gene for Bain type syndromic mental retardationJacek Pilch, Agnieszka A Koppolu, Anna Walczak, et al.
Science Advances|September 26, 2025
A sensory and motor neuropathy caused by a genetic variant of <i>NAMPT</i>Zhe Zhang, Jacek Pilch, Samuel Lundt, et al.
American Journal of Medical Genetics. Part A|July 12, 2011
Wolf-Hirschhorn syndrome due to pure and translocation forms of monosomy 4p16.1 → pterPiotr S Iwanowski, Barbara Panasiuk, Griet Van Buggenhout, et al.
Journal of the Neurological Sciences|December 17, 2015
Molecular spectrum of the SPAST, ATL1 and REEP1 gene mutations associated with the most common hereditary spastic paraplegias in a group of Polish patientsEwelina Elert-Dobkowska, Iwona Stepniak, Wioletta Krysa, et al.
Journal of Applied Genetics|May 13, 2021
Clinical characteristics of Polish patients with molecularly confirmed Mowat-Wilson syndromeAleksandra Jakubiak, Krzysztof Szczałuba, Magdalena Badura-Stronka, et al.
Pageof 3