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1 . Academic Journal
Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles
저자
by
Angius, Andrea
;
Baker, Janice A.
;
Bedoukian, Emma
;
Bhambhani, Vikas
;
Bodamer, Olaf
, et al.
소스
In
Human Genetics and Genomics Advances
18 July 2024 5(3)
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7 . Academic Journal
High-Resolution Breakpoint Analysis Provides Evidence for the Sequence-Directed Nature of Genome Rearrangements in Hereditary Disorders
저자
by
Kovac, Michal B.
;
Kovacova, Monika
;
Bachraty, Hynek
;
Bachrata, Katarina
;
Piscuoglio, Salvatore
, et al.
소스
Human Mutation
. Feb 01, 2015 36(2):250-259
Scopus
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7 . Academic Journal
Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium ‘Care for CMMRD’ (C4CMMRD)
저자
by
Wimmer, Katharina
;
Kratz, Christian P
;
Vasen, Hans F A
;
Caron, Olivier
;
Colas, Chrystelle
, et al.
소스
Journal of Medical Genetics
. Jun 01, 2014 51(6):355-365
Full Text (BMJ Journals)
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7 . Academic Journal
Comprehensive genetic characterization of hereditary breast/ovarian cancer families from Slovakia
저자
by
Konecny, Michal
;
Milly, Miriam
;
Zavodna, Katarina
;
Weismanova, Eva
;
Gregorova, Jaroslava
, et al.
소스
Breast Cancer Research and Treatment
. February 2011 126(1):119-130
Full Text (Springer)
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7 . Academic Journal
Rapid and Efficient Detection of EGFR Mutations in Problematic Cytologic Specimens by High-Resolution Melting Analysis
저자
by
Hlinkova, Katarina
;
Babál, Pavel
;
Berzinec, Peter
;
Majer, Ivan
;
Ilencikova, Denisa
.
소스
Molecular Diagnosis & Therapy
. February 2011 15(1):21-29
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7 . Academic Journal
Spectrum of germ-line MLH1 and MSH2 mutations in Austrian patients with hereditary nonpolyposis colorectal cancer
저자
by
Wolf, Brigitte
;
Henglmueller, Silvia
;
Janschek, Elisabeth
;
Ilencikova, Denisa
;
Ludwig-Papst, Carmen
, et al.
소스
Wiener klinische Wochenschrift: The Middle European Journal of Medicine
. April 2005 117(7-8):269-277
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7 . Academic Journal
High-grade brain tumors in siblings with biallelic MSH6 mutations
저자
by
Ilencikova, Denisa
;
Sejnova, Daniela
;
Jindrova, Jana
;
Babal, Pavel
.
소스
Pediatric Blood & Cancer
. Dec 01, 2011 57(6):1067-1070
Full Text (Wiley)
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6 . Academic Journal
Chronic pancreatitis with polycystic kidney disease: A rare coincidence?
저자
by
Hrckova, Gabriela
;
Hegyi, Eszter
;
Skalicka, Katarina
;
Cierna, Iveta
;
Dallos, Tomas
, et al.
소스
NEFROLOGIA
; MAY-JUN 2020, 40 3, p351-p355, 5p.
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7 . Academic Journal
Myhre Syndrome Associated With Dunbar Syndrome and Urinary Tract Abnormalities: A Case Report
저자
by
Varenyiova, Zofia
;
Hrckova, Gabriela
;
Ilencikova, Denisa
;
Podracka, Ludmila
.
소스
FRONTIERS IN PEDIATRICS
; FEB 27 2020, 8 p72 7p.
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6 . Academic Journal
The CHEK2 c.1100delC germline mutation rarely contributes to breast cancer development in the Czech Republic
저자
by
Kleibl, Zdenek
;
Novotny, Jan
;
Bezdickova, Drahomira
;
Malik, Radek
;
Kleiblova, Petra
, et al.
소스
Breast Cancer Research and Treatment
. 03 2005 90(2):165-167
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