Search Results - "Mahmut, C"
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Bi-allelic Mutations in M1AP Are a Frequent Cause of Meiotic Arrest and Severely Impaired Spermatogenesis Leading to Male Infertility
Published in American journal of human genetics (06-08-2020)“…Male infertility affects ∼7% of men, but its causes remain poorly understood. The most severe form is non-obstructive azoospermia (NOA), which is, in part,…”
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Perspectives of Clinicians on the Value of the Get to Know Me Board in the ICU
Published in Chest (18-10-2024)“…Critical illness can render patients at heightened risk of anonymity, loss of dignity, and dehumanization. Because dehumanization results in significant…”
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3
In Silico Analysis of a De Novo OTC Variant as a Cause of Ornithine Transcarbamylase Deficiency
Published in Applied immunohistochemistry & molecular morphology (01-02-2022)“…Ornithine transcarbamylase deficiency (OTCD) is the most common X-linked hereditary disorder of urea cycle disorders that is caused by neonatal hyperammonemia…”
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4
The “vaccine” hubbub: Viral load comparisons of SARS‐CoV‐2 Delta and Omicron variants against different vaccine–booster vaccine combinations
Published in Journal of medical virology (01-01-2023)“…There is a significant body of evidence showing that efficient vaccination schemes against severe acute respiratory syndrome coronavirus 2 (SARS‐CoV‐2) is…”
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5
Identification of a Novel De Novo COMP Gene Variant as a Likely Cause of Pseudoachondroplasia
Published in Applied immunohistochemistry & molecular morphology (01-08-2021)“…Next-generation sequencing technology and advanced sequence analysis techniques are markedly speeding up the identification of gene variants causing rare…”
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6
The Story of a Ship Journey, Malaria, and the HBB Gene IVS-II-745 Mutation: Circassian Immigration to Cyprus
Published in Global medical genetics (01-06-2021)“…Abstract Background During 19th century, the Circassians were secluded from their lands and forced to migrate to Ottoman Empire properties. Approximately…”
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Turkish validity and reliability study of the Weiss Functional Impairment Rating Scale-Parent Report
Published in Attention deficit and hyperactivity disorders (01-06-2015)“…Attention deficit hyperactivity disorder (ADHD) is seen frequently in childhood and leads to marked impairment in functioning. There is no scale in Turkey with…”
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Natural compounds as inhibitors of SARS-CoV-2 endocytosis: A promising approach against COVID-19
Published in Acta bio-medica : Atenei Parmensis (09-11-2020)“…The recent COVID-19 pandemic caused by SARS-CoV-2 affected more than six million people and caused thousands of deaths. The lack of effective drugs or vaccines…”
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9
Psychomotor Delay in a Child with FGFR3 G380R Pathogenic Mutation Causing Achondroplasia
Published in Global medical genetics (01-09-2021)“…Abstract Achondroplasia (ACH) is a hereditary disorder of dwarfism that is caused by the aberrant proliferation and differentiation of chondrocyte growth…”
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10
cis- and trans- regulation controls of human meiotic recombination at a hotspot
Published in The eurobiotech journal (01-10-2017)“…PRDM9 plays a key role in specifying meiotic recombination hotspot locations in humans. To examine the effects of both the 13-bp sequence motif (cis-regulator)…”
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Laparoscopic cholecystectomy in patients undergoing continuous ambulatory peritoneal dialysis: a case-control study
Published in Surgical laparoscopy, endoscopy & percutaneous techniques (01-04-2009)“…This case-control study assesses laparoscopic cholecystectomy (LC) in patients with end-stage renal disease treated with continuous ambulatory peritoneal…”
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Treatment approaches for spontaneous retroperitoneal bleeding
Published in International surgery (01-04-2009)“…In this study, we investigated critical issues in the diagnosis and treatment of spontaneous retroperitoneal bleeding. The medical records of 16 patients who…”
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13
Effects of heparin on bacterial translocation and gut epithelial apoptosis after burn injury in the rat: Dose-dependent inhibition of the complement cascade
Published in Burns (01-08-2005)“…This study investigated levels of complement inhibition, apoptosis of gut epithelium, and bacterial translocation (BT) associated with different doses of…”
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Management strategies for patients with nipple discharge
Published in Langenbeck's archives of surgery (01-02-2005)“…The aim of this study was to assess management strategies for patients with nipple discharge (ND). The records of 13,443 women with breast-related complaints…”
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15
In Silico Analysis of a De Novo OTC Variant as a Cause of Ornithine Transcarbamylase Deficiency
Published in Applied immunohistochemistry & molecular morphology (19-10-2021)“…Ornithine transcarbamylase deficiency (OTCD) is the most common X-linked hereditary disorder of urea cycle disorders that is caused by neonatal hyperammonemia…”
Get full text
Journal Article -
16
Perspectives of clinicians on the value of the Get to Know Me board in the Intensive Care Unit
Published in Chest (18-10-2024)“…Critical illness can render patients at heightened risk of anonymity, loss of dignity and dehumanization. As dehumanization results in significant patient…”
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Journal Article -
17
The Impact of Transient Elevation of Intra-Abdominal Pressure on Liver Regeneration in the Rat
Published in Journal of investigative surgery (01-11-2004)“…Transient increased intra-abdominal pressure (IIAP) due to carbon dioxide insufflation is suspected to cause a form of ischemia-reperfusion injury. Considering…”
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18
A giant villous adenoma case mimicking right colon carcinoma
Published in The Turkish journal of gastroenterology (01-12-2004)“…An 85-year-old woman was admitted to our hospital due to pain and swelling in her right inguinal region. She had a right inguinal hernia. Abdominal…”
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19
Atypical presentation of chronic pancreatic fistula: a case successfully managed with long-acting somatostatin
Published in The Turkish journal of gastroenterology (01-09-2003)“…Pancreatic fistula is a potential complication of trauma or inflammation of the pancreatic duct or accessory pancreatic ducts. These fistulous tracts tend to…”
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20
Identification of a Novel De Novo COMP Gene Variant as a Likely Cause of Pseudoachondroplasia
Published in Applied immunohistochemistry & molecular morphology (15-02-2021)“…Next-generation sequencing technology and advanced sequence analysis techniques are markedly speeding up the identification of gene variants causing rare…”
Get full text
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