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Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly.
- Published in:
- 2002
- By:
- Publication type:
- Erratum
Molecular characterization of a ring X chromosome in a male with short stature.
- Published in:
- Human Genetics, 2002, v. 110, n. 4, p. 322, doi. 10.1007/s00439-002-0685-7
- By:
- Publication type:
- Article
Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly.
- Published in:
- Human Genetics, 2002, v. 110, n. 4, p. 297, doi. 10.1007/s00439-002-0695-5
- By:
- Publication type:
- Article
Connexin 26 (GJB2) mutations in the Turkish population: implications for the origin and high frequency of the 35delG mutation in Caucasians.
- Published in:
- Human Genetics, 2001, v. 108, n. 5, p. 385, doi. 10.1007/s004390100507
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- Publication type:
- Article
Breast cancer risk coordinators: Artificial intelligence–based density measurement and Mullerian-inhibiting substance.
- Published in:
- Irish Journal of Medical Science, 2023, v. 192, n. 4, p. 1601, doi. 10.1007/s11845-022-03187-4
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- Publication type:
- Article
The promise of whole-exome sequencing in medical genetics.
- Published in:
- Journal of Human Genetics, 2014, v. 59, n. 1, p. 5, doi. 10.1038/jhg.2013.114
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- Publication type:
- Article
High frequency of kidney and urinary tract anomalies in asymptomatic first-degree relatives of patients with CAKUT.
- Published in:
- Pediatric Nephrology, 2013, v. 28, n. 11, p. 2143, doi. 10.1007/s00467-013-2530-8
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- Publication type:
- Article
Prenatal maternal risk factors for infantile colic.
- Published in:
- Nursing Children & Young People, 2015, v. 27, n. 10, p. 32, doi. 10.7748/ncyp.27.10.32.s28
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- Publication type:
- Article
An Investigation into Novice English Teachers' Views and Beliefs about Method and Post-method Pedagogy in Turkish EFL Context.
- Published in:
- Turkish Online Journal of Qualitative Inquiry, 2013, v. 4, n. 4, p. 55
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- Publication type:
- Article
A Day-Ahead Wind Power Scenario Generation, Reduction, and Quality Test Tool.
- Published in:
- Sustainability (2071-1050), 2017, v. 9, n. 5, p. 864, doi. 10.3390/su9050864
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- Publication type:
- Article
The Characteristics of Non-Diabetic Mothers with Macrosomic Newborns.
- Published in:
- Journal of Current Pediatrics / Guncel Pediatri, 2016, v. 14, n. 1, p. 23, doi. 10.4274/jcp.44154
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- Publication type:
- Article
Identification of candidate gene FAM183A and novel pathogenic variants in known genes: High genetic heterogeneity for autosomal recessive intellectual disability.
- Published in:
- PLoS ONE, 2018, v. 13, n. 11, p. 1, doi. 10.1371/journal.pone.0208324
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- Publication type:
- Article
A defect in the inner kinetochore protein CENPT causes a new syndrome of severe growth failure.
- Published in:
- PLoS ONE, 2017, v. 12, n. 12, p. 1, doi. 10.1371/journal.pone.0189324
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- Publication type:
- Article
A Case With Short Stature, Growth Hormone Deficiency and 46, XX, Xq27-qter Deletion.
- Published in:
- 2017
- By:
- Publication type:
- Case Study
Treatment of post-traumatic elbow deformities in children with the Ilizarov distraction osteogenesis technique.
- Published in:
- Acta Orthopaedica Traumatologica Turcica, 2017, v. 51, n. 1, p. 29, doi. 10.1016/j.aott.2016.08.019
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- Publication type:
- Article
Clinical and pathological results of denosumab treatment for giant cell tumors of bone: Prospective study of 14 cases.
- Published in:
- Acta Orthopaedica Traumatologica Turcica, 2017, v. 51, n. 1, p. 1, doi. 10.1016/j.aott.2016.03.004
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- Publication type:
- Article
Elastofibroma dorsi: Clinical evaluation of 61 cases and review of the literature.
- Published in:
- Acta Orthopaedica Traumatologica Turcica, 2017, v. 51, n. 1, p. 7, doi. 10.1016/j.aott.2016.10.001
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- Publication type:
- Article
Anatomic compatibility of femoral intramedullary implants: a cadaveric study.
- Published in:
- Acta Orthopaedica Traumatologica Turcica, 2016, v. 50, n. 2, p. 222, doi. 10.3944/AOTT.2016.15.0204
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- Publication type:
- Article
KBG syndrome.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Early detection of myocardial deformation by 2D speckle tracking echocardiography in normotensive obese children and adolescents.
- Published in:
- Anatolian Journal of Cardiology / Anadolu Kardiyoloji Dergisi, 2015, v. 15, n. 2, p. 151, doi. 10.5152/akd.2014.5189
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- Publication type:
- Article
The frequency of FV G1691A and PT G20210A mutations in an Albanian population.
- Published in:
- 2011
- By:
- Publication type:
- Letter
Benign Acute Childhood Myositis due to Toxoplasmosis.
- Published in:
- 2016
- By:
- Publication type:
- letter
Dispersed DNA variants underlie hearing loss in South Florida's minority population.
- Published in:
- Human Genomics, 2023, v. 17, n. 1, p. 1, doi. 10.1186/s40246-023-00556-7
- By:
- Publication type:
- Article
Homozygous mutations in the 15-hydroxyprostaglandin dehydrogenase gene in patients with primary hypertrophic osteoarthropathy.
- Published in:
- Rheumatology International, 2009, v. 30, n. 1, p. 39, doi. 10.1007/s00296-009-0895-6
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- Publication type:
- Article
Arthritis in children with familial Mediterranean fever.
- Published in:
- Rheumatology International, 2002, v. 21, n. 6, p. 213, doi. 10.1007/s00296-001-0168-5
- By:
- Publication type:
- Article
Psychological and social effects of COVID-19 pandemic on obstetrics and gynecology employees.
- Published in:
- Journal of Surgery & Medicine (JOSAM), 2020, v. 4, n. 5, p. 355, doi. 10.28982/josam.735384
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- Publication type:
- Article
Autozygosity in a Turkish family with scoliosis, blindness, and arachnodactyly syndrome.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Poor Appetite in School Children: Is It a False Perception of Parents?
- Published in:
- Journal of Pediatric Research, 2015, v. 2, n. 1, p. 11, doi. 10.4274/jpr.58077
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- Publication type:
- Article
Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 12, p. 2149, doi. 10.1093/hmg/ddp148
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- Publication type:
- Article
Complete Heart Block Related to Mumps Myocarditis in an 80-Year-Old Woman.
- Published in:
- Journal of Academic Emergency Medicine Case Reports / Akademik Acil Tip Olgu Sunumlari Dergisi, 2015, v. 6, n. 2, p. 36, doi. 10.5152/jaemcr.2015.948
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- Publication type:
- Article
Afflictive Effect of Squirting Cucumber: Isolated Uvular Oedema due to Complication of a Herbal Medicine.
- Published in:
- Journal of Academic Emergency Medicine Case Reports / Akademik Acil Tip Olgu Sunumlari Dergisi, 2013, v. 4, n. 2, p. 84, doi. 10.5505/jaemcr.2013.75002
- By:
- Publication type:
- Article
Afflictive Effect of Squirting Cucumber: Isolated Uvular Oedema due to Complication of a Herbal Medicine.
- Published in:
- Journal of Academic Emergency Medicine Case Reports / Akademik Acil Tip Olgu Sunumlari Dergisi, 2013, v. 4, n. 2, p. 84, doi. 10.5505/jaemcr.2013.75002
- By:
- Publication type:
- Article
Does intrauterine tobacco exposure increase the pain perception of newborns?
- Published in:
- Journal of Pain Research, 2016, v. 9, p. 319, doi. 10.2147/JPR.S108500
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- Publication type:
- Article
A Rare Association; Pulmonary Artery Sling and Mowat-Wilson Syndrome.
- Published in:
- Duzce Medical Journal, 2013, v. 15, n. 2, p. 49
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- Publication type:
- Article
A Turkish case of incontinentia pigmenti with a deletion mutation at Inhibitor of kappa B kinase gamma gene.
- Published in:
- Egyptian Journal of Medical Human Genetics, 2022, v. 23, n. 1, p. 1, doi. 10.1186/s43042-022-00215-x
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- Publication type:
- Article
Sendromik olmayan ailesel işitme kaybının genetik temelinin araştırılması.
- Published in:
- Türk Pediatri Arşivi, 2017, v. 52, n. 3, p. 122, doi. 10.5152/TurkPediatriArs.2017.4254
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- Publication type:
- Article
Apendikste Tenya Enfestasyonu: Olgu Sunumu.
- Published in:
- Journal of General Medicine / Genel Tıp Dergisi, 2016, v. 26, n. 3, p. 98
- By:
- Publication type:
- Article
Halk Kütüphanelerinin Bölgesel Dağılım Trendi: Gini Kat Sayılarıyla 1995-2005 Dönemi için Uygulamalar.
- Published in:
- Information World / Bilgi Dünyası, 2008, v. 9, n. 2, p. 505, doi. 10.15612/bd.2008.315
- By:
- Publication type:
- Article
BREAKING THE SHELL: A STUDY ON TURKISH STUDENTS' REACTIONS TOWARDS SEXUAL IDENTITY ISSUES IN THE LANGUAGE CLASSROOM.
- Published in:
- Gay & Lesbian Issues & Psychology Review, 2011, v. 7, n. 3, p. 217
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- Publication type:
- Article
Do we really ponder about necessity of intravenous hydration in acute bronchiolitis?
- Published in:
- Colombia Medica, 2016, v. 47, n. 1, p. 21, doi. 10.25100/cm.v47i1.1933
- By:
- Publication type:
- Article
Reconstruction of critical size segmental femoral diaphyseal defects of New Zealand rabbits by using combined titanium mesh cage and induced membrane technique.
- Published in:
- European Journal of Orthopaedic Surgery & Traumatology, 2023, v. 33, n. 3, p. 629, doi. 10.1007/s00590-022-03330-y
- By:
- Publication type:
- Article
Yoğun Bakım Ünitesinde Takip Edilen İntoksikasyon Olgularının Retrospektif Olarak İncelenmesi.
- Published in:
- Ortadogu Medical Journal / Ortadogu Tip Dergisi, 2015, v. 7, n. 1, p. 5
- By:
- Publication type:
- Article
Serous Cystadenoma in 12 Years Old Girl Presenting with Severe Anemia.
- Published in:
- 2014
- By:
- Publication type:
- Case Study
Spectrum of Genetic Variants Associated with Anterior Segment Dysgenesis in South Florida.
- Published in:
- Genes, 2020, v. 11, n. 4, p. 350, doi. 10.3390/genes11040350
- By:
- Publication type:
- Article
Identification of Main Genetic Causes Responsible for Non-Syndromic Hearing Loss in a Peruvian Population.
- Published in:
- Genes, 2019, v. 10, n. 8, p. 581, doi. 10.3390/genes10080581
- By:
- Publication type:
- Article
The Generation of Zebrafish Mariner Model Using the CRISPR/Cas9 System.
- Published in:
- Anatomical Record: Advances in Integrative Anatomy & Evolutionary Biology, 2020, v. 303, n. 3, p. 556, doi. 10.1002/ar.24221
- By:
- Publication type:
- Article
Serum Ischemia-Modified Albumin Levels in Experimental Model of Acute Pancreatitis.
- Published in:
- Journal of the College of Physicians & Surgeons Pakistan, 2015, v. 25, n. 6, p. 395
- By:
- Publication type:
- Article
Clinical and radiological outcomes of Salter versus Pemberton osteotomies in the management of developmental dysplasia of the hip: A retrospective comparative study.
- Published in:
- Acta Orthopaedica Traumatologica Turcica, 2022, v. 56, n. 2, p. 120, doi. 10.5152/j.aott.2022.20401
- By:
- Publication type:
- Article
Ultrasonographic measurement of the dimensions of proximal and distal patellar fragments after Niebauer-King Procedure for the management of congenital dislocation of the knee.
- Published in:
- Acta Orthopaedica Traumatologica Turcica, 2021, v. 55, n. 4, p. 321, doi. 10.5152/j.aott.2021.20362
- By:
- Publication type:
- Article
Neutrophil-to-lymphocyte ratio as a novel-potential marker for predicting prognosis of Bell palsy.
- Published in:
- Laryngoscope, 2014, v. 124, n. 7, p. 1678, doi. 10.1002/lary.24551
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- Publication type:
- Article