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1 . Academic Journal
Congenital generalized lipodystrophy: The evaluation of clinical follow-up findings in a series of five patients with type 1 and two patients with type 4
저자
by
Nilay Güneş
;
Kutlu, Tufan
;
Tekant, Gonca Topuzlu
;
Eroğlu, Ayşe Güler
;
Üstündağ, Nil Çomunoğlu
, et al.
소스
In
European Journal of Medical Genetics
April 2020 63(4)
Full Text (Clinical Key)
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7 .
Early Diagnostic Signs and the Natural History of Typical Findings in Cohen Syndrome
저자
by
Nilay Güneş
;
Dilek Uludağ Alkaya
;
Veysi Demirbilek
;
Cengiz Yalçınkaya
;
Beyhan Tüysüz
.
소스
The Journal of Pediatrics
. 252:93-100
Full Text (Clinical Key)
Web of Science
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7 .
Clinical features of generalized lipodystrophy in Turkey: A cohort analysis
저자
by
Ilgin Yildirim Simsir
;
Beyhan Tuysuz
;
Mehmet Nuri Ozbek
;
Seher Tanrikulu
;
Merve Celik Guler
, et al.
소스
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7 .
Long‐term follow‐up findings in a Turkish girl with osteogenesis imperfecta type
XX
caused by a homozygous
MESD
variant
저자
by
Dilek Uludağ Alkaya
;
Zehra Oya Uyguner
;
Nilay Güneş
;
Beyhan Tüysüz
.
소스
American Journal of Medical Genetics Part A
. 188:1639-1646
Web of Science
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6 .
An Observational Study of Serum Vitamin D Status in Critically Ill Children Admitted to the Pediatric Intensive Care Unit
저자
by
Nilay Gunes
;
Halit Çam
.
소스
Archives of Medical Science
.
Open Access (OpenAIRE)
Scopus
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4 .
Neurofibromatosis Type 1 in Children: A Single-Center Experience
저자
by
Nilay Güneş
;
Ayşe Gonca Kaçar
;
Beyhan Tüysüz
;
Simge Çınar Özel
;
Tülin Tiraje Celkan
, et al.
소스
Turkish Archives of Pediatrics
Open Access (OpenAIRE)
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7 .
Investigation of genetic and phenotypic heterogeneity in 37 Turkish patients with Kabuki and Kabuki-like phenotype
저자
by
Esra Usluer
;
Gözde Yeşil Sayın
;
Nilay Güneş
;
Buşra Kasap
;
Beyhan Tüysüz
.
소스
American journal of medical genetics. Part AREFERENCES
. 188(10)
Scopus
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7 .
Skeletal and molecular findings in 51 Cleidocranial dysplasia patients from Turkey
저자
by
Hülya Kayserili
;
Dilek Uludağ Alkaya
;
Sukru Palanduz
;
Ercan Mihci
;
Nilay Güneş
, et al.
소스
American Journal of Medical Genetics Part A
. 185:2488-2495
Web of Science
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7 .
Neurofibromatosis type 1: Expanded variant spectrum with multiplex ligation‐dependent probe amplification and genotype–phenotype correlation in 138 Turkish patients
저자
by
Gozde Yesil
;
Nilay Güneş
;
Busra Kasap
;
Tiraje Celkan
;
Rejin Kebudi
, et al.
소스
Annals of Human Genetics
. 85:155-165
Open Access (OpenAIRE)
Web of Science
Scopus
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7 .
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
Beyhan Tüysüz
;
Leyla Elkanova
;
Dilek Uludağ Alkaya
;
Çağrı Güleç
;
Güven Toksoy
, et al.
소스
Bone
. 155
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