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Orphanet Journal of Rare Diseases
|
May 21, 2026
Longitudinal study of somatic development in Polish patients with Silver-Russell syndrome reveals that chest-to-head proportion as a new clinical indicator for the syndrome
Anna Świąder-Leśniak, Dorota Jurkiewicz, Agnieszka Madej-Pilarczyk, et al.
Human Mutation
|
February 16, 2005
Twelve novel JAG1 gene mutations in Polish Alagille syndrome patients
Dorota Jurkiewicz, Ewa Popowska, Christiane Gläser, et al.
American Journal of Medical Genetics. Part A
|
April 2, 2004
Anthropometric characteristics of X-linked hypophosphatemia
Ewa Pronicka, Ewa Popowska, Elzbieta Rowińska, et al.
Endokrynologia Polska
|
December 9, 2020
X-linked hypophosphataemic rickets in children: clinical phenotype, therapeutic strategies, and molecular background
Monika Obara-Moszynska, Aleksandra Rojek, Zofia Kolesinska, et al.
European Journal of Medical Genetics
|
August 2, 2005
A case described as translocation 15;15 revised: maternal 15 UPD, resulting from isochromosome 15, in a PWS patient
Anna Gutkowska, Anna Tylki-Szymańska, Ewa Popowska, et al.
Clinical Dysmorphology
|
December 6, 2019
Rare clinical findings in three sporadic cases of Beckwith-Wiedemann syndrome due to novel mutations in the CDKN1C gene
Dorota Jurkiewicz, Agata Skórka, Elżbieta Ciara, et al.
Annals of Hepatology
|
March 24, 2021
Progressive familial intrahepatic cholestasis type 3: Report of four clinical cases, novel ABCB4 variants and long-term follow-up
Patryk Lipiński, Elżbieta Ciara, Dorota Jurkiewicz, et al.
Endokrynologia Polska
|
June 19, 2023
The effects of 3-year growth hormone treatment and body composition in Polish patients with Silver-Russell syndrome
Anna Świąder-Leśniak, Dorota Jurkiewicz, Honorata Kołodziejczyk, et al.
Frontiers in Pediatrics
|
January 2, 2023
Case Report: Adenosine kinase deficiency diagnosed 10 years after liver transplantation: Novel phenotypic insights
Patryk Lipiński, Elżbieta Ciara, Dorota Jurkiewicz, et al.
American Journal of Medical Genetics. Part A
|
September 10, 2016
A novel IGF2/H19 domain triplication in the 11p15.5 imprinting region causing either Beckwith-Wiedemann or Silver-Russell syndrome in a single family
Dorota Jurkiewicz, Monika Kugaudo, Agata Skórka, et al.
Page
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Search research articles
Search
Showing results (1-10 of 31) with videos related to
Sort By:
Page
of 4
Orphanet Journal of Rare Diseases
|
May 21, 2026
Longitudinal study of somatic development in Polish patients with Silver-Russell syndrome reveals that chest-to-head proportion as a new clinical indicator for the syndrome
Anna Świąder-Leśniak, Dorota Jurkiewicz, Agnieszka Madej-Pilarczyk, et al.
Human Mutation
|
February 16, 2005
Twelve novel JAG1 gene mutations in Polish Alagille syndrome patients
Dorota Jurkiewicz, Ewa Popowska, Christiane Gläser, et al.
American Journal of Medical Genetics. Part A
|
April 2, 2004
Anthropometric characteristics of X-linked hypophosphatemia
Ewa Pronicka, Ewa Popowska, Elzbieta Rowińska, et al.
Endokrynologia Polska
|
December 9, 2020
X-linked hypophosphataemic rickets in children: clinical phenotype, therapeutic strategies, and molecular background
Monika Obara-Moszynska, Aleksandra Rojek, Zofia Kolesinska, et al.
European Journal of Medical Genetics
|
August 2, 2005
A case described as translocation 15;15 revised: maternal 15 UPD, resulting from isochromosome 15, in a PWS patient
Anna Gutkowska, Anna Tylki-Szymańska, Ewa Popowska, et al.
Clinical Dysmorphology
|
December 6, 2019
Rare clinical findings in three sporadic cases of Beckwith-Wiedemann syndrome due to novel mutations in the CDKN1C gene
Dorota Jurkiewicz, Agata Skórka, Elżbieta Ciara, et al.
Annals of Hepatology
|
March 24, 2021
Progressive familial intrahepatic cholestasis type 3: Report of four clinical cases, novel ABCB4 variants and long-term follow-up
Patryk Lipiński, Elżbieta Ciara, Dorota Jurkiewicz, et al.
Endokrynologia Polska
|
June 19, 2023
The effects of 3-year growth hormone treatment and body composition in Polish patients with Silver-Russell syndrome
Anna Świąder-Leśniak, Dorota Jurkiewicz, Honorata Kołodziejczyk, et al.
Frontiers in Pediatrics
|
January 2, 2023
Case Report: Adenosine kinase deficiency diagnosed 10 years after liver transplantation: Novel phenotypic insights
Patryk Lipiński, Elżbieta Ciara, Dorota Jurkiewicz, et al.
American Journal of Medical Genetics. Part A
|
September 10, 2016
A novel IGF2/H19 domain triplication in the 11p15.5 imprinting region causing either Beckwith-Wiedemann or Silver-Russell syndrome in a single family
Dorota Jurkiewicz, Monika Kugaudo, Agata Skórka, et al.
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of 4