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1 . Academic Journal
The molecular spectrum of Turkish osteopetrosis and related osteoclast disorders with natural history, including a candidate gene, CCDC120
저자
by
Tüysüz, Beyhan
;
Usluer, Esra
;
Uludağ Alkaya, Dilek
;
Ocak, Süheyla
;
Saygılı, Seha
, et al.
소스
In
Bone
December 2023 177
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7 . Academic Journal
Investigation of (Epi)genetic causes in syndromic short children born small for gestational age
저자
by
Tüysüz, Beyhan
;
Kasap, Büşra
;
Uludağ Alkaya, Dilek
;
Alp Ünkar, Zeynep
;
Köseoğlu, Pınar
, et al.
소스
In
European Journal of Medical Genetics
November 2023 66(11)
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7 . Academic Journal
Osteogenesis imperfecta in 140 Turkish families: Molecular spectrum and, comparison of long-term clinical outcome of those with COL1A1/A2 and biallelic variants
저자
by
Tüysüz, Beyhan
;
Elkanova, Leyla
;
Uludağ Alkaya, Dilek
;
Güleç, Çağrı
;
Toksoy, Güven
, et al.
소스
In
Bone
February 2022 155
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7 . Academic Journal
Natural history of facial and skeletal features from neonatal period to adulthood in a 3M syndrome cohort with biallelic CUL7 or OBSL1 variants
저자
by
Tüysüz, Beyhan
;
Alp Ünkar, Zeynep
;
Turan, Hande
;
Gezdirici, Alper
;
Uludağ Alkaya, Dilek
, et al.
소스
In
European Journal of Medical Genetics
December 2021 64(12)
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7 . Academic Journal
Natural history of clinical features in two brothers with acromesomelic dysplasia related to PRKG2.
저자
by
Mollaoğlu, Ezgi
;
Uludağ Alkaya, Dilek
;
Yıldız, Ceren Ayça
;
Kasap, Buşra
;
Tüysüz, Beyhan
.
소스
Clinical Genetics
. May2023, Vol. 103 Issue 5, p574-579. 6p.
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7 . Academic Journal
Investigation of 11p15.5 Methylation Defects Associated with Beckwith-Wiedemann Spectrum and Embryonic Tumor Risk in Lateralized Overgrowth Patients.
저자
by
Tüysüz, Beyhan
;
Bozlak, Serdar
;
Uludağ Alkaya, Dilek
;
Ocak, Süheyla
;
Kasap, Büşra
, et al.
소스
Cancers
. Mar2023, Vol. 15 Issue 6, p1872. 11p.
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7 . Academic Journal
An investigation of the etiology and follow‐up findings in 35 children with overgrowth syndromes, including biallelic SUZ12 variant.
저자
by
Yüksel Ülker, Aylin
;
Uludağ Alkaya, Dilek
;
Çağlayan, Ahmet Okay
;
Usluer, Esra
;
Aykut, Ayça
, et al.
소스
American Journal of Medical Genetics. Part A; Jun2023, Vol. 191 Issue 6, p1530-1545, 16p
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7 . Academic Journal
Long-Term Follow-Up Outcomes of 19 Patients with Osteogenesis Imperfecta Type XI and Bruck Syndrome Type I Caused by FKBP10 Variants.
저자
by
Yüksel Ülker, Aylin
;
Uludağ Alkaya, Dilek
;
Elkanova, Leyla
;
Şeker, Ali
;
Akpınar, Evren
, et al.
소스
Calcified Tissue International
. Dec2021, Vol. 109 Issue 6, p633-644. 12p.
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7 . Periodical
Biallelic frameshift variants in PHLDB1cause mild-type osteogenesis imperfecta with regressive spondylometaphyseal changes
저자
by
Tuysuz, Beyhan
;
Uludag Alkaya, Dilek
;
Geyik, Filiz
;
Alaylıoğlu, Merve
;
Kasap, Busra
, et al.
소스
Journal of Medical Genetics (JMG); 2023, Vol. 60 Issue: 8 p819-826, 8p
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7 . Academic Journal
Long‐term follow‐up findings in a Turkish girl with osteogenesis imperfecta type XX caused by a homozygous MESD variant.
저자
by
Uludağ Alkaya, Dilek
;
Uyguner, Zehra Oya
;
Güneş, Nilay
;
Tüysüz, Beyhan
.
소스
American Journal of Medical Genetics. Part A; May2022, Vol. 188 Issue 5, p1639-1646, 8p
Web of Science
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