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21 . Academic Journal
20-year experience on prenatal diagnosis in a reference university medical genetics center in Turkey.
저자
by
DURMAZ, Burak
;
BOLAT, Hilmi
;
CENGİSİZ, Zehra
;
AKERCAN, Fuat
;
TÜRK, Tuba SÖZEN
, et al.
소스
Turkish Journal of Medical Sciences
. 2021, Vol. 51 Issue 4, p1775-1780. 6p.
Scopus
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27 . Periodical
Prenatal diagnosis of a case with tetrasomy 9p confirmed by cytogenetics, FISH, microarray analysis and review
저자
by
Kok Kilic, Gizem
;
Pariltay, Erhan
;
Karaca, Emin
;
Durmaz, Burak
;
Ekici, Huseyin
, et al.
소스
Taiwanese Journal of Obstetrics and Gynecology; January 2022, Vol. 61 Issue: 1 p122-126, 5p
Full Text (Clinical Key)
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Full Text (ScienceDirect O/A)
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27 . Academic Journal
Four diseases, PLAID, APLAID, FCAS3 and CVID and one gene (PHOSPHOLIPASE C, GAMMA‐2; PLCG2): Striking clinical phenotypic overlap and difference.
저자
by
Kutukculer, Necil
;
Topyildiz, Ezgi
;
Berdeli, Afig
;
Guven Bilgin, Burcu
;
Aykut, Ayca
, et al.
소스
Clinical Case Reports
. Apr2021, Vol. 9 Issue 4, p2023-2031. 9p.
Open Access (Wiley)
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27 . Academic Journal
Association of mutation in PTPN14 gene and gingival fibromatosis with distinctive facies: a novel finding in whole exome sequencing.
저자
by
Cogulu, Ozgur
;
Mojarrab, Neda
;
Simsir, Ozguc S.
;
Durmaz, Asude
;
Aykut, Ayca
, et al.
소스
Clinical Dysmorphology; Apr2021, Vol. 30 Issue 2, p93-99, 7p
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27 . Academic Journal
Determination of Lymphocyte Cytokinesis-Block Micronucleus Values in Apparently Healthy Children by means of Age and Sex.
저자
by
Durmaz, Burak
;
Taslidere, Hasan
;
Koturoglu, Guldane
;
Gunduz, Cumhur
;
Orman, Mehmet
, et al.
소스
BioMed Research International
(BIOMED RES INT), 12/26/2019; 1-6. (6p)
EBSCOHost PDF
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27 . Academic Journal
A New Cause of Obesity Syndrome Associated with a Mutation in the Carboxypeptidase Gene Detected in Three Siblings with Obesity, Intellectual Disability and Hypogonadotropic Hypogonadism.
저자
by
Durmaz, Asude
;
Aykut, Ayça
;
Atik, Tahir
;
Özen, Samim
;
Emecen, Durdugül Ayyıldız
, et al.
소스
Journal of Clinical Research in Pediatric Endocrinology
. Mar2021, Vol. 13 Issue 1, p52-60. 9p.
Scopus
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27 . Academic Journal
Quality of Life and Psychological Well-being in Children and Adolescents with Disorders of Sex Development.
저자
by
Pilan, Birsen Şentürk
;
Özbaran, Burcu
;
Çelik, Didem
;
Özcan, Tuğçe
;
Özen, Samim
, et al.
소스
Journal of Clinical Research in Pediatric Endocrinology
. Mar2021, Vol. 13 Issue 1, p23-33. 11p.
Scopus
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27 . Academic Journal
Biallelic ZNF335 mutations cause basal ganglia abnormality with progressive cerebral/cerebellar atrophy.
저자
by
Caglayan, Ahmet Okay
;
Yaghouti, Kourosh
;
Kockaya, Tanyel
;
Kemer, Demet
;
Cankaya, Tufan
, et al.
소스
Journal of Neurogenetics
. Mar2021, Vol. 35 Issue 1, p23-28. 6p.
Scopus
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27 . Academic Journal
A rare cause of syndromic short stature: 3M syndrome in three families.
저자
by
Isik, Esra
;
Arican, Duygu
;
Atik, Tahir
;
Ooi, Joo Enn
;
Darcan, Sukran
, et al.
소스
American Journal of Medical Genetics. Part A; Feb2021, Vol. 185 Issue 2, p461-468, 8p
Scopus
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27 . Academic Journal
Whole Genome microRNA Expression Data in Childhood Acute Lymphoblastic Leukemia and Evaluation of microRNA Pathways Using Fuzzy C-means.
저자
by
ÖZGÜR, Su
;
ORMAN, Mehmet Nurullah
;
BAĞCA, Bakiye GÖKER
;
DUYU, Muhterem
;
ÇOĞULU, Özgür
.
소스
Turkiye Klinikleri Journal of Biostatistics
. 2021, Vol. 13 Issue 1, p70-81. 12p.
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