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1 . Academic Journal
The phenotype‐driven computational analysis yields clinical diagnosis for patients with atypical manifestations of known intellectual disability syndromes
저자
by
Aleksandra Jezela‐Stanek
;
Elżbieta Ciara
;
Dorota Jurkiewicz
;
Marzena Kucharczyk
;
Maria Jędrzejowska
, et al.
소스
Molecular Genetics & Genomic Medicine, Vol 8, Iss 9, Pp n/a-n/a (2020)
Open Access (Wiley)
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7 . Academic Journal
Malan syndrome (Sotos syndrome 2) in two patients with 19p13.2 deletion encompassing NFIX gene and novel NFIX sequence variant
저자
by
Aleksandra Jezela-Stanek
;
Marzena Kucharczyk
;
Katarzyna Falana
;
Dorota Jurkiewicz
;
Marlena Mlynek
, et al.
소스
Biomedical Papers, Vol 160, Iss 1, Pp 161-167 (2016)
Open Access (DOAJ)
Web of Science
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7 . Academic Journal
Breakpoint Mapping of Symptomatic Balanced Translocations Links the EPHA6, KLF13 and UBR3 Genes to Novel Disease Phenotype
저자
by
Victor Murcia Pienkowski
;
Marzena Kucharczyk
;
Małgorzata Rydzanicz
;
Barbara Poszewiecka
;
Katarzyna Pachota
, et al.
소스
Journal of Clinical Medicine, Vol 9, Iss 5, p 1245 (2020)
Open Access (DOAJ)
Web of Science
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7 . Academic Journal
Oculocutaneous albinism in a patient with 17p13.2-pter duplication - a review on the molecular syndromology of 17p13 duplication
저자
by
Marzena Kucharczyk
;
Aleksandra Jezela-Stanek
;
Dorota Gieruszczak-Bialek
;
Monika Kugaudo
;
Agata Cieslikowska
, et al.
소스
Biomedical Papers, Vol 159, Iss 2, Pp 333-337 (2015)
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7 .
Breakpoint Mapping of Symptomatic Balanced Translocations Links the EPHA6, KLF13 and UBR3 Genes to Novel Disease Phenotype
저자
by
Małgorzata Rydzanicz
;
Marlena Młynek
;
Agnieszka Pollak
;
Dorota Wicher
;
Agnieszka Stembalska
, et al.
소스
Journal of Clinical Medicine, Vol 9, Iss 1245, p 1245 (2020)
Journal of Clinical Medicine
Journal of Clinical Medicine; Volume 9; Issue 5; Pages: 1245
Open Access (OpenAIRE)
Scopus
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7 .
Mapping of breakpoints in balanced chromosomal translocations by shallow whole-genome sequencing points toEFNA5,BAHD1andPPP2R5Eas novel candidates for genes causing human Mendelian disorders
저자
by
Agata Skórka
;
Victor Murcia Pienkowski
;
Agnieszka Koppolu
;
Anna Walczak
;
Jennifer Castaneda
, et al.
소스
Journal of Medical Genetics
. 56:104-112
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7 .
Additional data on the clinical phenotype of Helsmoortel-Van der Aa syndrome associated with a novel truncating mutation inADNPgene
저자
by
Dorota Piekutowska-Abramczuk
;
Dorota Jurkiewicz
;
Krystyna H. Chrzanowska
;
Elżbieta Ciara
;
Małgorzata Krajewska-Walasek
, et al.
소스
American Journal of Medical Genetics Part A
. 170:1647-1650
Web of Science
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7 .
Malan syndrome (Sotos syndrome 2) in two patients with 19p13.2 deletion encompassing NFIX gene and novel NFIX sequence variant
저자
by
Małgorzata Rydzanicz
;
Marlena Młynek
;
Rafał Płoski
;
Dorota Wicher
;
Dorota Jurkiewicz
, et al.
소스
Biomedical Papers, Vol 160, Iss 1, Pp 161-167 (2016)
Open Access (OpenAIRE)
Web of Science
Scopus
JCR 저널정보
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7 .
Oculocutaneous albinism in a patient with 17p13.2-pter duplication - a review on the molecular syndromology of 17p13 duplication
저자
by
Dorota Gieruszczak-Białek
;
Monika Kugaudo
;
Agata Cieslikowska
;
Aleksandra Jezela-Stanek
;
Magdalena Pelc
, et al.
소스
Biomedical Papers, Vol 159, Iss 2, Pp 333-337 (2015)
Open Access (OpenAIRE)
Web of Science
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7 .
11p15 duplication and 13q34 deletion with Beckwith-Wiedemann syndrome and factor VII deficiency
저자
by
Monika Kugaudo
;
Anna Tańska
;
Agata Cieślikowska
;
Agnieszka Tomaszewska
;
Małgorzata Krajewska-Walasek
, et al.
소스
Pediatrics International
. 57:486-491
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