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A Jezela-Stanek

Showing results (1-10 of 7) with videos related to

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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.
Balkan Journal of Medical Genetics : BJMG|January 17, 2020
Infantile Alexander Disease with Late Onset Infantile Spasms and HypsarrhythmiaJ Paprocka, B Rzepka-Migut, N Rzepka, 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.
Genetic Counseling (Geneva, Switzerland)|September 10, 2015
MOLAR TOOTH SIGN AND ACROCALLOSAL SYNDROME--A REPORT ON A POLISH FAMILY AND REVIEW OF KIF7 SYNDROMOLOGYM Krajewska-Walasek, M Kugaudo, M Jędrzejowska, 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.
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.
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.
Pageof 1

Showing results (1-10 of 7) with videos related to

Sort By:
Pageof 1
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.
Balkan Journal of Medical Genetics : BJMG|January 17, 2020
Infantile Alexander Disease with Late Onset Infantile Spasms and HypsarrhythmiaJ Paprocka, B Rzepka-Migut, N Rzepka, 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.
Genetic Counseling (Geneva, Switzerland)|September 10, 2015
MOLAR TOOTH SIGN AND ACROCALLOSAL SYNDROME--A REPORT ON A POLISH FAMILY AND REVIEW OF KIF7 SYNDROMOLOGYM Krajewska-Walasek, M Kugaudo, M Jędrzejowska, 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.
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.
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.
Pageof 1