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1 . Academic Journal
Tracheal agenesis versus tracheal atresia: anatomical conditions, pathomechanisms and causes with a possible link to a novel MAPK11 variant in one case.
저자
by
Pfeifer, Mateja
;
Rehder, Helga
;
Gerykova Bujalkova, Maria
;
Bartsch, Christine
;
Fritz, Barbara
, et al.
소스
Orphanet Journal of Rare Diseases
. 3/12/2024, Vol. 19 Issue 1, p1-11. 11p.
Open Access (BioMed Central)
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7 . Periodical
Singleton exome sequencing of 90 fetuses with ultrasound anomalies revealing novel disease-causing variants and genotype–phenotype correlations
저자
by
Smogavec, Mateja
;
Gerykova Bujalkova, Maria
;
Lehner, Reinhard
;
Neesen, Jürgen
;
Behunova, Jana
, et al.
소스
European Journal of Human Genetics: EJHG; April 2022, Vol. 30 Issue: 4 p428-438, 11p
Web of Science
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7 . Academic Journal
Distal Arthrogryposis with Impaired Proprioception and Touch: Description of an Early Phenotype in a Boy with Compound Heterozygosity of PIEZO2 Mutations and Review of the Literature.
저자
by
Behunova, Jana
;
Gerykova Bujalkova, Maria
;
Gras, Gabriel
;
Taylor, Thomas
;
Ihm, Ulrike
, et al.
소스
Molecular Syndromology; Nov2018, Vol. 9 Issue 6, p287-294, 8p
Web of Science
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7 .
Large neutral amino acid levels tune perinatal neuronal excitability and survival
저자
by
Knaus, Lisa S.
;
Basilico, Bernadette
;
Malzl, Daniel
;
Gerykova Bujalkova, Maria
;
Smogavec, Mateja
, et al.
소스
Cell
. 186:1950-1967.e25
Full Text (ScienceDirect O/A)
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7 . Periodical
Distal Arthrogryposis with Impaired Proprioception and Touch: Description of an Early Phenotype in a Boy with Compound Heterozygosity of PIEZO2Mutations and Review of the Literature
저자
by
Behunova, Jana
;
Gerykova Bujalkova, Maria
;
Gras, Gabriel
;
Taylor, Thomas
;
Ihm, Ulrike
, et al.
소스
Molecular Syndromology; January 2019, Vol. 9 Issue: 6 p287-294, 8p
Web of Science
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7 . Academic Journal
Utilization of Benchtop Next Generation Sequencing Platforms Ion Torrent PGM and MiSeq in Noninvasive Prenatal Testing for Chromosome 21 Trisomy and Testing of Impact of In Silico and Physical Size Selection on Its Analytical Performance.
저자
by
Minarik, Gabriel
;
Repiska, Gabriela
;
Hyblova, Michaela
;
Nagyova, Emilia
;
Soltys, Katarina
, et al.
소스
PLoS ONE
. 12/15/2015, Vol. 10 Issue 12, p1-12. 12p.
Web of Science
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7 . Academic Journal
Identification of a novel mutations BRCA1*c.80 + 3del4 and BRCA2*c.6589delA in Slovak HBOC families.
저자
by
Konecny, Michal
;
Vizvaryova, Miriam
;
Zavodna, Katarina
;
Behulova, Regina
;
Gerykova Bujalkova, Maria
, et al.
소스
Breast Cancer Research & Treatment; Feb2010, Vol. 119 Issue 1, p233-237, 5p
Full Text (Springer)
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7 .
Identification of a novel mutations c.80 + 3del4 and *c.6589delA in Slovak HBOC families
저자
by
Konecny, Michal
;
Vizvaryova, Miriam
;
Zavodna, Katarina
;
Behulova, Regina
;
Gerykova Bujalkova, Maria
, et al.
소스
Breast Cancer Research and Treatment
Breast Cancer Research and Treatment, Springer Verlag, 2008, 119 (1), pp.233-237. ⟨10.1007/s10549-008-0244-6⟩
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