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Jacek Pilch

Showing results (21-30 of 29) with videos related to

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Human Mutation|October 13, 2017
Differential regulation of two FLNA transcripts explains some of the phenotypic heterogeneity in the loss-of-function filaminopathiesZandra A Jenkins, Alison Macharg, Cheng-Yee Chang, et al.
JIMD Reports|October 3, 2015
No Evidence for Association of SCO2 Heterozygosity with High-Grade Myopia or Other Diseases with Possible Mitochondrial DysfunctionDorota Piekutowska-Abramczuk, Beata Kocyła-Karczmarewicz, Maja Małkowska, et al.
Journal of Medical Genetics|March 22, 2015
Rare variants in SOS2 and LZTR1 are associated with Noonan syndromeGuilherme Lopes Yamamoto, Meire Aguena, Monika Gos, et al.
Human Mutation|September 17, 2020
Goldberg-Shprintzen syndrome is determined by the absence, or reduced expression levels, of KIFBPKatherine C MacKenzie, Bianca M de Graaf, Andreas Syrimis, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 16, 2017
A cohort of 17 patients with kyphoscoliotic Ehlers-Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural historyCecilia Giunta, Matthias Baumann, Christine Fauth, et al.
Neurology|September 11, 2020
Cardiac phenotype in <i>ATP1A3</i>-related syndromes: A multicenter cohort studySimona Balestrini, Mohamad A Mikati, Reyes Álvarez-García-Rovés, et al.
European Journal of Medical Genetics|March 21, 2015
Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndromeSaskia M Maas, Adam C Shaw, Hennie Bikker, et al.
Nature Genetics|February 28, 2012
Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndromeJeroen K J Van Houdt, Beata Anna Nowakowska, Sérgio B Sousa, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 7, 2021
Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorderDaniel L Polla, Mohammad Ali Farazi Fard, Zahra Tabatabaei, et al.
Pageof 3

Showing results (21-30 of 29) with videos related to

Sort By:
Pageof 3
You have reached the last page of results.This site can display upto 29 results.
Human Mutation|October 13, 2017
Differential regulation of two FLNA transcripts explains some of the phenotypic heterogeneity in the loss-of-function filaminopathiesZandra A Jenkins, Alison Macharg, Cheng-Yee Chang, et al.
JIMD Reports|October 3, 2015
No Evidence for Association of SCO2 Heterozygosity with High-Grade Myopia or Other Diseases with Possible Mitochondrial DysfunctionDorota Piekutowska-Abramczuk, Beata Kocyła-Karczmarewicz, Maja Małkowska, et al.
Journal of Medical Genetics|March 22, 2015
Rare variants in SOS2 and LZTR1 are associated with Noonan syndromeGuilherme Lopes Yamamoto, Meire Aguena, Monika Gos, et al.
Human Mutation|September 17, 2020
Goldberg-Shprintzen syndrome is determined by the absence, or reduced expression levels, of KIFBPKatherine C MacKenzie, Bianca M de Graaf, Andreas Syrimis, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 16, 2017
A cohort of 17 patients with kyphoscoliotic Ehlers-Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural historyCecilia Giunta, Matthias Baumann, Christine Fauth, et al.
Neurology|September 11, 2020
Cardiac phenotype in <i>ATP1A3</i>-related syndromes: A multicenter cohort studySimona Balestrini, Mohamad A Mikati, Reyes Álvarez-García-Rovés, et al.
European Journal of Medical Genetics|March 21, 2015
Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndromeSaskia M Maas, Adam C Shaw, Hennie Bikker, et al.
Nature Genetics|February 28, 2012
Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndromeJeroen K J Van Houdt, Beata Anna Nowakowska, Sérgio B Sousa, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 7, 2021
Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorderDaniel L Polla, Mohammad Ali Farazi Fard, Zahra Tabatabaei, et al.
Pageof 3