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E Ciara

Showing results (1-10 of 15) with videos related to

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Medycyna Wieku Rozwojowego|July 27, 2000
[Hyperammonaemia type II as one of the congenital urea cycle defects]E Ciara
Neurologia I Neurochirurgia Polska|July 4, 2013
Magnetic resonance spectroscopy and molecular studies in ornithine transcarbamylase deficiency novel mutation c.802A>G in exon 8 (p.Met268Val)E Jamroz, J Paprocka, M Sokół, et al.
Genetic Counseling (Geneva, Switzerland)|September 12, 2018
PHENOTYPIC CONSEQUENCES AND THE MALIGNANCY RISK IN FAMILIAL NOONAN SYNDROME DUE TO A RARE P.S427G RAF1 MUTATIONM Pelc, E Ciara, A Jezela-Stanek, et al.
Journal of Applied Genetics|April 23, 2021
Anthropometric characteristics of 65 Polish Smith-Lemli-Opitz patientsA Różdżyńska-Świątkowska, E Ciara, P Halat-Wolska, et al.
European Journal of Medical Genetics|February 6, 2008
Mild Smith-Lemli-Opitz syndrome: further delineation of 5 Polish cases and review of the literatureA Jezela-Stanek, E Ciara, E M Malunowicz, et al.
Journal of Inherited Metabolic Disease|November 20, 2008
Hypoxanthine-guanine phosphoribosylotransferase deficiency--the spectrum of Polish mutationsA Jurecka, E Popowska, A Tylki-Szymanska, et al.
Balkan Journal of Medical Genetics : BJMG|May 18, 2026
Phenotypic And Molecular Characteristics of Three Additional Patients With <i>HUWE1</i>-Related X-Linked Intellectual DisabilityM Jędrzejowska, A Madej-Pilarczyk, A Babameto-Laku, et al.
European Journal of Medical Genetics|February 25, 2006
SLOS carrier frequency in Poland as determined by screening for Trp151X and Val326Leu DHCR7 mutationsE Ciara, E Popowska, D Piekutowska-Abramczuk, et al.
Clinical Genetics|February 3, 2006
Maternal urinary steroid profiles in prenatal diagnosis of Smith-Lemli-Opitz syndrome: first patient series comparing biochemical and molecular studiesA Jezela-Stanek, E M Małunowicz, E Ciara, et al.
Clinical Genetics|November 4, 2004
DHCR7 mutations and genotype-phenotype correlation in 37 Polish patients with Smith-Lemli-Opitz syndromeE Ciara, M J M Nowaczyk, M Witsch-Baumgartner, et al.
Pageof 2

Showing results (1-10 of 15) with videos related to

Sort By:
Pageof 2
Medycyna Wieku Rozwojowego|July 27, 2000
[Hyperammonaemia type II as one of the congenital urea cycle defects]E Ciara
Neurologia I Neurochirurgia Polska|July 4, 2013
Magnetic resonance spectroscopy and molecular studies in ornithine transcarbamylase deficiency novel mutation c.802A>G in exon 8 (p.Met268Val)E Jamroz, J Paprocka, M Sokół, et al.
Genetic Counseling (Geneva, Switzerland)|September 12, 2018
PHENOTYPIC CONSEQUENCES AND THE MALIGNANCY RISK IN FAMILIAL NOONAN SYNDROME DUE TO A RARE P.S427G RAF1 MUTATIONM Pelc, E Ciara, A Jezela-Stanek, et al.
Journal of Applied Genetics|April 23, 2021
Anthropometric characteristics of 65 Polish Smith-Lemli-Opitz patientsA Różdżyńska-Świątkowska, E Ciara, P Halat-Wolska, et al.
European Journal of Medical Genetics|February 6, 2008
Mild Smith-Lemli-Opitz syndrome: further delineation of 5 Polish cases and review of the literatureA Jezela-Stanek, E Ciara, E M Malunowicz, et al.
Journal of Inherited Metabolic Disease|November 20, 2008
Hypoxanthine-guanine phosphoribosylotransferase deficiency--the spectrum of Polish mutationsA Jurecka, E Popowska, A Tylki-Szymanska, et al.
Balkan Journal of Medical Genetics : BJMG|May 18, 2026
Phenotypic And Molecular Characteristics of Three Additional Patients With <i>HUWE1</i>-Related X-Linked Intellectual DisabilityM Jędrzejowska, A Madej-Pilarczyk, A Babameto-Laku, et al.
European Journal of Medical Genetics|February 25, 2006
SLOS carrier frequency in Poland as determined by screening for Trp151X and Val326Leu DHCR7 mutationsE Ciara, E Popowska, D Piekutowska-Abramczuk, et al.
Clinical Genetics|February 3, 2006
Maternal urinary steroid profiles in prenatal diagnosis of Smith-Lemli-Opitz syndrome: first patient series comparing biochemical and molecular studiesA Jezela-Stanek, E M Małunowicz, E Ciara, et al.
Clinical Genetics|November 4, 2004
DHCR7 mutations and genotype-phenotype correlation in 37 Polish patients with Smith-Lemli-Opitz syndromeE Ciara, M J M Nowaczyk, M Witsch-Baumgartner, et al.
Pageof 2