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Jacek Pilch

Showing results (1-10 of 29) with videos related to

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Journal of Child Neurology|August 2, 2002
Friedreich's ataxiaJacek Pilch, Ewa Jamroz, Elzbieta Marszał
European Journal of Pediatrics|November 15, 2007
The Pallister-Killian syndrome in a child with rare karyotype--a diagnostic problemRobert Smigiel, Jacek Pilch, Izabela Makowska, et al.
Brain Sciences|December 23, 2022
Encephalocraniocutaneous Lipomatosis, a Radiological Challenge: Two Atypical Case Reports and Literature ReviewMagdalena Machnikowska-Sokołowska, Piotr Fabrowicz, Jacek Pilch, et al.
American Journal of Medical Genetics. Part A|March 9, 2006
The ARX mutations: a frequent cause of X-linked mental retardationMagdalena Nawara, Krzysztof Szczaluba, Karine Poirier, et al.
Journal of Applied Genetics|March 2, 2017
A rare subclinical or mild type of Becker muscular dystrophy caused by a single exon 48 deletion of the dystrophin geneJanusz G Zimowski, Jacek Pilch, Magdalena Pawelec, et al.
Wiadomosci Lekarskie (Warsaw, Poland : 1960)|March 21, 2008
[Diagnostic problems with long QT syndrome in 5-year-old boy]Anna Kostorz, Barbara Szwed-Białozyt, Beata Wesołek-Kamińska, et al.
Brain Sciences|November 21, 2020
Leukoencephalopathy with Calcifications and Cysts-The First Polish Patient with Labrune SyndromeMagdalena Machnikowska-Sokołowska, Jacek Pilch, Justyna Paprocka, et al.
Pediatric Neurology|October 12, 2010
Surveyor nuclease detection of mutations and polymorphisms of mtDNA in childrenJacek Pilch, Marek Asman, Ewa Jamroz, et al.
Journal of Assisted Reproduction and Genetics|December 6, 2015
Meiotic and pedigree segregation analyses in carriers of t(4;8)(p16;p23.1) differing in localization of breakpoint positions at 4p subband 4p16.3 and 4p16.1Alina T Midro, Marcella Zollino, Ewa Wiland, et al.
Neurogenetics|February 20, 2019
Next-generation sequencing study reveals the broader variant spectrum of hereditary spastic paraplegia and related phenotypesEwelina Elert-Dobkowska, Iwona Stepniak, Wioletta Krysa, et al.
Pageof 3

Showing results (1-10 of 29) with videos related to

Sort By:
Pageof 3
Journal of Child Neurology|August 2, 2002
Friedreich's ataxiaJacek Pilch, Ewa Jamroz, Elzbieta Marszał
European Journal of Pediatrics|November 15, 2007
The Pallister-Killian syndrome in a child with rare karyotype--a diagnostic problemRobert Smigiel, Jacek Pilch, Izabela Makowska, et al.
Brain Sciences|December 23, 2022
Encephalocraniocutaneous Lipomatosis, a Radiological Challenge: Two Atypical Case Reports and Literature ReviewMagdalena Machnikowska-Sokołowska, Piotr Fabrowicz, Jacek Pilch, et al.
American Journal of Medical Genetics. Part A|March 9, 2006
The ARX mutations: a frequent cause of X-linked mental retardationMagdalena Nawara, Krzysztof Szczaluba, Karine Poirier, et al.
Journal of Applied Genetics|March 2, 2017
A rare subclinical or mild type of Becker muscular dystrophy caused by a single exon 48 deletion of the dystrophin geneJanusz G Zimowski, Jacek Pilch, Magdalena Pawelec, et al.
Wiadomosci Lekarskie (Warsaw, Poland : 1960)|March 21, 2008
[Diagnostic problems with long QT syndrome in 5-year-old boy]Anna Kostorz, Barbara Szwed-Białozyt, Beata Wesołek-Kamińska, et al.
Brain Sciences|November 21, 2020
Leukoencephalopathy with Calcifications and Cysts-The First Polish Patient with Labrune SyndromeMagdalena Machnikowska-Sokołowska, Jacek Pilch, Justyna Paprocka, et al.
Pediatric Neurology|October 12, 2010
Surveyor nuclease detection of mutations and polymorphisms of mtDNA in childrenJacek Pilch, Marek Asman, Ewa Jamroz, et al.
Journal of Assisted Reproduction and Genetics|December 6, 2015
Meiotic and pedigree segregation analyses in carriers of t(4;8)(p16;p23.1) differing in localization of breakpoint positions at 4p subband 4p16.3 and 4p16.1Alina T Midro, Marcella Zollino, Ewa Wiland, et al.
Neurogenetics|February 20, 2019
Next-generation sequencing study reveals the broader variant spectrum of hereditary spastic paraplegia and related phenotypesEwelina Elert-Dobkowska, Iwona Stepniak, Wioletta Krysa, et al.
Pageof 3