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E Ciara

Showing results (11-20 of 15) with videos related to

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Clinical Genetics|December 16, 2017
A de novo loss-of-function DYNC1H1 mutation in a patient with parkinsonian features and a favourable response to levodopaK Szczałuba, K Szymańska, M Rydzanicz, et al.
Clinical Genetics|December 12, 2017
Phenotype expansion and development in Kosaki overgrowth syndromeP Gawliński, M Pelc, E Ciara, et al.
Clinical Genetics|July 9, 2013
Novel c.191C>G (p.Pro64Arg) MPV17 mutation identified in two pairs of unrelated Polish siblings with mitochondrial hepatoencephalopathyD Piekutowska-Abramczuk, M Pronicki, K Strawa, et al.
European Journal of Human Genetics : EJHG|February 15, 2001
Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutationsM Witsch-Baumgartner, E Ciara, J Löffler, et al.
Molecular Genetics and Metabolism Reports|May 5, 2016
Difficulties in recognition of pyruvate dehydrogenase complex deficiency on the basis of clinical and biochemical features. The role of next-generation sequencingE Ciara, D Rokicki, P Halat, et al.
Pageof 2

Showing results (11-20 of 15) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 15 results.
Clinical Genetics|December 16, 2017
A de novo loss-of-function DYNC1H1 mutation in a patient with parkinsonian features and a favourable response to levodopaK Szczałuba, K Szymańska, M Rydzanicz, et al.
Clinical Genetics|December 12, 2017
Phenotype expansion and development in Kosaki overgrowth syndromeP Gawliński, M Pelc, E Ciara, et al.
Clinical Genetics|July 9, 2013
Novel c.191C>G (p.Pro64Arg) MPV17 mutation identified in two pairs of unrelated Polish siblings with mitochondrial hepatoencephalopathyD Piekutowska-Abramczuk, M Pronicki, K Strawa, et al.
European Journal of Human Genetics : EJHG|February 15, 2001
Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutationsM Witsch-Baumgartner, E Ciara, J Löffler, et al.
Molecular Genetics and Metabolism Reports|May 5, 2016
Difficulties in recognition of pyruvate dehydrogenase complex deficiency on the basis of clinical and biochemical features. The role of next-generation sequencingE Ciara, D Rokicki, P Halat, et al.
Pageof 2