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Mutations in ANKRD11 Cause KBG Syndrome, Characterized by Intellectual Disability, Skeletal Malformations, and Macrodontia

American journal of human genetics, 2011-08, Vol.89 (2), p.289-294

2011

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Homozygous Mutations in Fibroblast Growth Factor 3 Are Associated with a New Form of Syndromic Deafness Characterized by Inner Ear Agenesis, Microtia, and Microdontia

American journal of human genetics, 2007-02, Vol.80 (2), p.338-344

2007

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Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival

Human molecular genetics, 2009-06, Vol.18 (12), p.2149-2165

2009

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A complex TFAP2A allele is associated with branchio‐oculo‐facial syndrome and inner ear malformation in a deaf child

American journal of medical genetics. Part A, 2009-03, Vol.149A (3), p.427-430

2009

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Mutations in TMC1 contribute significantly to nonsyndromic autosomal recessive sensorineural hearing loss: A report of five novel mutations

International journal of pediatric otorhinolaryngology, 2009-05, Vol.73 (5), p.699-705

2009

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Homozygous mutations in the 15-hydroxyprostaglandin dehydrogenase gene in patients with primary hypertrophic osteoarthropathy

Rheumatology international, 2009-11, Vol.30 (1), p.39-43

2009

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A novel mutation in TRIM37 is associated with mulibrey nanism in a Turkish boy

Clinical dysmorphology, 2007-07, Vol.16 (3), p.173-176

2007

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Expression of cyclooxygenase-2 in orbital fibroadipose connective tissues of Graves' ophthalmopathy patients

European journal of endocrinology, 2006-11, Vol.155 (5), p.681-685

2006

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Rubinstein-Taybi syndrome with normal FISH result and CREBBP gene analysis: a case report

Turkish journal of pediatrics, 2008-05, Vol.50 (3), p.265-268

2008

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Severe muscle–eye–brain disease is associated with a homozygous mutation in the POMGnT1 gene

European journal of paediatric neurology, 2008-03, Vol.12 (2), p.133-136

2008

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Expression of Cyclooxygenase-2 and Ki-67 in Primary and Recurrent Pterygias

Türkiye klinikleri. Türkiye klinikeri journal of medical sciences. Tıp bilimleri dergisi, 2011, Vol.31 (1), p.115-121

2011

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A Complex TFAP2A Allele Is Associated With BranchloOculo-Facial Syndrome and Inner Ear Malformation in a Deaf Child

American journal of medical genetics. Part A, 2009, Vol.149 (3), p.427-430

2009

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Loss-of-function mutations in ATP6VOA2 impair vesicular trafficking, tropoelastin secretion and cell survival

Human molecular genetics, 2009, Vol.18 (12), p.2149-2165

2009

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Expression of Cyclooxygenase-2 and Ki-67 in Primary and Recurrent Pterygias/Primer ve Nüks Pterjiyumda Siklooksijenaz-2 ve Ki-67 Ekspresyonu

Türkiye klinikleri. Türkiye klinikeri journal of medical sciences. Tıp bilimleri dergisi, 2011-01, Vol.31 (1), p.115

2011

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A complex TFAP2A allele is associated with branchio-oculo-facial syndrome and inner ear malformation in a deaf child

American Journal of Medical Genetics Part A, 2009, Vol.149A (3), p.427-430

2009

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Surgical treatment of huge orbital retinoblastoma under general anesthesia in a three-year old child

Brazilian journal of anesthesiology (Elsevier), 2022-09, Vol.72 (5), p.676-677

2022

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Surgical treatment of huge orbital retinoblastoma under general anesthesia in a three-year old child

Brazilian Journal of Anesthesiology, 2022-10, Vol.72 (5), p.676-677

2022

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Development And Biomechanical Validation Of Medical Insoles To Prevent Foot Ulcers On Diabetic Patients By Means Of Thermoplastic Elastomers And Additive Manufacturing Technologies

2019 Medical Technologies Congress (TIPTEKNO), 2019, p.1-4

2019

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A simple method to increase the diagnostic efficiency of gastroesophageal scintigraphy using the knee-chest position

Clinical nuclear medicine, 1999-11, Vol.24 (11), p.842

1999

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Mutations in ANKRD11 Cause KBG Syndrome, Characterized by Intellectual Disability, Skeletal Malformations, and Macrodontia

Homozygous Mutations in Fibroblast Growth Factor 3 Are Associated with a New Form of Syndromic Deafness Characterized by Inner Ear Agenesis, Microtia, and Microdontia

Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival

A complex TFAP2A allele is associated with branchio‐oculo‐facial syndrome and inner ear malformation in a deaf child

Mutations in TMC1 contribute significantly to nonsyndromic autosomal recessive sensorineural hearing loss: A report of five novel mutations

Homozygous mutations in the 15-hydroxyprostaglandin dehydrogenase gene in patients with primary hypertrophic osteoarthropathy

A novel mutation in TRIM37 is associated with mulibrey nanism in a Turkish boy

Expression of cyclooxygenase-2 in orbital fibroadipose connective tissues of Graves' ophthalmopathy patients

Rubinstein-Taybi syndrome with normal FISH result and CREBBP gene analysis: a case report

Severe muscle–eye–brain disease is associated with a homozygous mutation in the POMGnT1 gene

Expression of Cyclooxygenase-2 and Ki-67 in Primary and Recurrent Pterygias

A Complex TFAP2A Allele Is Associated With BranchloOculo-Facial Syndrome and Inner Ear Malformation in a Deaf Child

Loss-of-function mutations in ATP6VOA2 impair vesicular trafficking, tropoelastin secretion and cell survival

Expression of Cyclooxygenase-2 and Ki-67 in Primary and Recurrent Pterygias/Primer ve Nüks Pterjiyumda Siklooksijenaz-2 ve Ki-67 Ekspresyonu

A complex TFAP2A allele is associated with branchio-oculo-facial syndrome and inner ear malformation in a deaf child

Surgical treatment of huge orbital retinoblastoma under general anesthesia in a three-year old child

Surgical treatment of huge orbital retinoblastoma under general anesthesia in a three-year old child

Development And Biomechanical Validation Of Medical Insoles To Prevent Foot Ulcers On Diabetic Patients By Means Of Thermoplastic Elastomers And Additive Manufacturing Technologies

A simple method to increase the diagnostic efficiency of gastroesophageal scintigraphy using the knee-chest position

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