Search Results - "Molecular Genetics"

Infantile Pompe disease with intrauterine onset: a case report and literature review by Hongmin Xi, Xianghong Li, Lili Ma, Xiangyun Yin, Ping Yang, Lulu Zhang

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Creatine Transporter Deficiency Presenting as Failure to Thrive: A Case Report of a Novel Variant Causing a Treatable but Likely Underdiagnosed Genetic Disorder by Christina G. Tise MD, PhD, Melinda J. Palma MD, Kristina P. Cusmano-Ozog MD, Dena R. Matalon MD

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Adrenoleukodystrophy in the Differential Diagnosis of Boys Presenting with Primary Adrenal Insufficiency without Adrenal Antibodies by Michael R Ryalls, Hoong-Wei Gan, James E Davison

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Investigating genetic predisposition to premature decline in ovarian reserve by E. V. Kudryavtseva, N. V. Kurbatova, V. V. Кovalev, D. K. Islamidi

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Prevalence of acute intestinal infections and their role in human pathology (review) by E. V. Kozishkurt

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Niemann-Pick disease type C in Palestine: genotype and phenotype of sixteen patients and report of a novel mutation in the NPC1 gene by Imad Dweikat, Othman Thaher, Abdulrahman Abosleem, Almotazbellah Zeer, Ameer Abo Mokh

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Case reports of two pedigrees with recessive arrhythmogenic right ventricular cardiomyopathy associated with homozygous Thr335Ala variant in DSG2 by Sami Qadri, Olli Anttonen, Juho Viikilä, Eija H. Seppälä, Samuel Myllykangas, Tero-Pekka Alastalo, Miia Holmström, Tiina Heliö, Juha W. Koskenvuo

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REPRODUCTIVE HEALTH OF WOMEN AFTER SURGICAL TREATMENT OF ACUTE PURULENT INFLAMMATORY DISEASES OF UTERINE APPENDAGES by Константин Александрович Тониян, Дмитрий Геннадьевич Арютин, Александра Андреевна Белоусова

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Novel missense mutation of SASH1 in a Chinese family with dyschromatosis universalis hereditaria by Lu Cao, Ruixue Zhang, Liang Yong, Shirui Chen, Hui Zhang, Weiwei Chen, Qiongqiong Xu, Huiyao Ge, Yiwen Mao, Qi Zhen, Yafen Yu, Xia Hu, Liangdan Sun

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Meckel Syndrome: Genetics, Perinatal Findings, and Differential Diagnosis by Chih-Ping Chen

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Characteristics of Glycemic Variability in Patients with GCK-MODY by A. K. Ovsyannikova, M. V. Dudina, Yu. A. Dolinskaya, O. D. Rymar

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Role of TLR4, NLRC1/NOD1 and NF-κB in Inflammation of Gastric Mucosa in Helicobacter pylori Infection in Children by O.Ye. Abaturov, O.M. Gerasymenko

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Statins and highly sensitive cardiac troponins: cardiotoxicity or cross-reactivity? by A. M. Chaulin, D. V. Duplyakov

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Large B-cell lymphoma with IRF4 rearrangement: a special tonsillar lymphoma in children by Jie Man, Yizhen Wang, Xiaowen Zhai, Lian Chen, Yangyang Ma, Hongsheng Wang

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Genetic investigation confirmed the clinical phenotype of congenital chloride diarrhea in a Hungarian patient: a case report by Éva Dávid, Dóra Török, Katalin Farkas, Nikoletta Nagy, Emese Horváth, Zsuzsanna Kiss, György Oroszlán, Márta Balogh, Márta Széll

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COVID/HIV Co-Infection: A Syndemic Perspective on What to Ask and How to Answer by Hailay Abrha Gesesew, Hailay Abrha Gesesew, Lillian Mwanri, Jacqueline H. Stephens, Kifle Woldemichael, Paul Ward

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TSEN54 Gene-Related Pontocerebellar Hypoplasia Type 2 Could Mimic Dyskinetic Cerebral Palsy with Severe Psychomotor Retardation by Iliyana Hristova Pacheva, Iliyana Hristova Pacheva, Tihomir Todorov, Ivan Ivanov, Ivan Ivanov, Desislava Tartova, Katerina Gaberova, Albena Todorova, Albena Todorova, Diana Dimitrova

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Hyperammonemic coma in a patient with late-onset OTC deficiency by V. D'Onofrio, F. Poma, A. Enea, F. Santarelli, C. Lovera, M. Spada

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Melanotic Xp11 translocation renal cancer: a report of a distinctive case and a review of the literature by Hongbiao Jing, Hong Wei, Hongtu Yuan, Yahong Li, Ning Li, Dianbin Mu

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Cost-utility analysis of genetic screening in families of patients with germline <it>MUTYH </it>mutations by Vasen Hans FA, Hes Frederik J, Nielsen Maartje, van den Hout Wilbert B

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