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1 . Academic Journal
A patient showing features of both SBBYSS and GPS supports the concept of a KAT6B-related disease spectrum, with mutations in mid-exon 18 possibly leading to combined phenotypes
저자
by
Vlckova, Marketa
;
Simandlova, Martina
;
Zimmermann, Pavel
;
Stranecky, Viktor
;
Hartmannova, Hana
, et al.
소스
In
European Journal of Medical Genetics
October 2015 58(10):550-555
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7 . Academic Journal
Chromosome 12q13.13 deletions involving the HOXC gene cluster: Phenotype and candidate genes
저자
by
Hancarova, Miroslava
;
Simandlova, Martina
;
Drabova, Jana
;
Petrak, Borivoj
;
Koudova, Monika
, et al.
소스
In
European Journal of Medical Genetics
March 2013 56(3):171-173
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7 . Academic Journal
Expanding the phenotype spectrum associated with pathogenic variants in the COL2A1 and COL11A1 genes.
저자
by
Čopíková, Jana
;
Paděrová, Jana
;
Románková, Věra
;
Havlovicová, Markéta
;
Balaščáková, Miroslava
, et al.
소스
Annals of Human Genetics
. Sep2020, Vol. 84 Issue 5, p380-392. 13p.
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7 . Academic Journal
Cutis laxa and excessive bone growth due to de novo mutations in
PTDSS1
.
저자
by
Piard, Juliette
;
Lespinasse, James
;
Vlckova, Marketa
;
Mensah, Martin A.
;
Iurian, Sorin
, et al.
소스
American Journal of Medical Genetics. Part A; Mar2018, Vol. 176 Issue 3, p668-675, 8p
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7 . Academic Journal
Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1
저자
by
Piard, Juliette
;
Lespinasse, James
;
Vlckova, Marketa
;
Mensah, Martin A.
;
Iurian, Sorin
, et al.
소스
American Journal of Medical Genetics Part A
. Mar 01, 2018 176(3):668-675
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7 . Academic Journal
Analysis of FOXL2 detects three novel mutations and an atypical phenotype of blepharophimosis-ptosis-epicanthus inversus syndrome.
저자
by
Krepelova, Anna
;
Simandlova, Martina
;
Vlckova, Marketa
;
Kuthan, Pavel
;
Vincent, Andrea L
, et al.
소스
Clinical & Experimental Ophthalmology
. Dec2016, Vol. 44 Issue 9, p757-762. 6p.
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7 . Academic Journal
Anophthalmia, hearing loss, abnormal pituitary development and response to growth hormone therapy in three children with microdeletions of 14q22q23.
저자
by
Brisset, Sophie
;
Slamova, Zuzana
;
Dusatkova, Petra
;
Briand-Suleau, Audrey
;
Milcent, Karen
, et al.
소스
Molecular Cytogenetics (17558166)
. 2014, Vol. 7 Issue 1, p1-13. 13p.
Open Access (BioMed Central)
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7 . Academic Journal
Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome.
저자
by
Sousa, Sérgio B
;
Jenkins, Dagan
;
Chanudet, Estelle
;
Tasseva, Guergana
;
Ishida, Miho
, et al.
소스
Nature Genetics
. Jan2014, Vol. 46 Issue 1, p70-76. 7p.
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7 . Academic Journal
Genotype–phenotype spectrum of PYCR1-related autosomal recessive cutis laxa.
저자
by
Dimopoulou, Aikaterini
;
Fischer, Björn
;
Gardeitchik, Thatjana
;
Schröter, Phillipe
;
Kayserili, Hülya
, et al.
소스
Molecular Genetics & Metabolism
. Nov2013, Vol. 110 Issue 3, p352-361. 10p.
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7 . Academic Journal
A patient with de novo 0.45 Mb deletion of 2p16.1: The role of BCL11A, PAPOLG, REL, and FLJ16341 in the 2p15-p16.1 microdeletion syndrome
저자
by
Hancarova, Miroslava
;
Simandlova, Martina
;
Drabova, Jana
;
Mannik, Katrin
;
Kurg, Ants
, et al.
소스
American Journal Of Medical Genetics - A
. Apr 01, 2013 161(4):865-870
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