Werner Syndrome Caused by Homozygous Frameshift Variant c.1578del in WRN by Jovita Patricija Druta, Gunda Petraitytė, Aušra Sasnauskienė, Eglė Preikšaitienė

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Correction: A novel ARCN1 splice-site variant in a Chinese girl with central precocious puberty, intrauterine growth restriction, microcephaly, and microretrognathia by Guoying Chang, Fan Yang, Lingwen Ying, Qianwen Zhang, Biyun Feng, Yao Chen, Yu Ding, Tingting Yu, Ruen Yao, Kana Lin, Juan Li, Xiumin Wang

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Genetic outline of the hermeneutics of the diseases connection phenomenon in human by E. Yu. Bragina, V. P. Puzyrev

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Highlights of the UDNI’s 12th International Conference (Tbilisi, Georgia, 2023) by Oleg Kvlividze, Tinatin (Tika) Tkemaladze

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Interpretation and classification of FBN1 variants associated with Marfan syndrome: consensus recommendations from the Clinical Genome Resource’s FBN1 variant curation expert panel... by A. Drackley, C. Somerville, P. Arnaud, L. M. Baudhuin, N. Hanna, M. L. Kluge, K. Kotzer, C. Boileau, L. Bronicki, B. Callewaert, A. Cecchi, H. Dietz, D. Guo, S. Harris, O. Jarinova, M. Lindsay, L. Little, B. Loeys, G. MacCarrick, J. Meester, D. Milewicz, T. Morisaki, H. Morisaki, D. Murdock, M. Renard, J. Richer, L. Robert, M. Ouzounian, L. Van Laer, J. De Backer, L. Muiño-Mosquera

“…Abstract Background In 2015, the American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) developed standardized variant curation guidelines for Mendelian disorders. …”
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Modeling Alzheimer’s Disease with Induced Pluripotent Stem Cells: Current Challenges and Future Concerns by Weiwei Zhang, Bin Jiao, Miaojin Zhou, Tao Zhou, Lu Shen

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Neonatal myoclonus in Bryant-Li-Bhoj syndrome associated with a novel H3F3A variant by Moemi Hojo, Noriko Soma, Kei Yamada, Yu Kobayashi, Masaki Miura, Hitomi Fujii, Hiromi Nyuzuki, Yosuke Nishio, Taichi Oso, Tomoo Ogi, Takeshi Ikeuchi, Jun Tohyama

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Generation of a human induced pluripotent stem cell line (UNIFEi001-A) from a patient with Spinocerebellar ataxia type 1 (SCA1) by Mariangela Pappadà, Sara Melija, Martina Facchini, Mara Martino, Sofia Minarini, Anna Caproni, Chiara Nordi, Paola Rimessi, Rita Selvatici, Peggy Marconi

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Skin Lesions Associated with Nutritional Management of Maple Syrup Urine Disease by Jaraspong Uaariyapanichkul, Puthita Saengpanit, Ponghatai Damrongphol, Kanya Suphapeetiporn, Sirinuch Chomtho

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Genotype-Phenotype Correlation in Patients with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency in Cuba by Tania Mayvel Espinosa Reyes, Teresa Collazo Mesa, Paulina Arasely Lantigua Cruz, Adriana Agramonte Machado, Emma Domínguez Alonso, Henrik Falhammar

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Choroidal Thickness Analysis in Patients with Usher Syndrome Type 2 Using EDI OCT by L. Colombo, B. Sala, G. Montesano, C. Pierrottet, S. De Cillà, P. Maltese, M. Bertelli, L. Rossetti

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Transcription factor TCF4: structure, function, and associated diseases by R. R. Savchenko, N. A. Skryabin

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Plasma lncRNA GAS8-AS1 as a Potential Biomarker of Papillary Thyroid Carcinoma in Chinese Patients by Dongxue Zhang, Xin Liu, Bojun Wei, Guoliang Qiao, Tao Jiang, Zhenwen Chen

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Case Report: Cholestatic liver disease in the course of erythropoietic protoporphyria associated with renal hypodysplasia and atrial septal defect by Patryk Lipiński, Agnieszka Lipniacka, Maja Klaudel-Dreszler, Lidia Ziółkowska, Grażyna Kostrzewa, Edyta Odnoczko, Robert Wasilewski, Rafał Płoski, Anna Tylki-Szymańska

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Replication and Meta-Analysis of 13,000 Cases Defines the Risk for Interleukin-23 Receptor and Autophagy-Related 16-Like 1 Variants in Crohn’s Disease by Lynn Cotterill, Debbie Payne, Scott Levison, John McLaughlin, Emma Wesley, Mark Feeney, Hilary Durbin, Simon Lal, Alistair Makin, Simon Campbell, Stephen A Roberts, Catherine O’Neill, Cathryn Edwards, William G Newman

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Sanger validation of WGS variants by Arina Kopernik, Mariia Sayganova, Gaukhar Zobkova, Natalia Doroschuk, Anna Smirnova, Daria Molodtsova-Zolotukhina, Olesya Sagaydak, Oxana Ryzhkova, Sergey Kutsev, Olga Groznova, Lyusya Melikyan, Elizaveta Bondarchuk, Mary Woroncow, Eugene Albert, Viktor Bogdanov, Pavel Volchkov

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Wolfram Syndrome: A Case Report and Review of Clinical Manifestations, Genetics Pathophysiology, and Potential Therapies by N. B. Toppings, J. M. McMillan, P. Y. B. Au, O. Suchowersky, L. E. Donovan

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Etiopathogenesis of Sheehan’s Syndrome: Roles of Coagulation Factors and TNF-Alpha by Halit Diri, Elif Funda Sener, Fahri Bayram, Nazife Tascioglu, Yasin Simsek, Munis Dundar

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Extrinsic Factors Influencing Fetal Deformations and Intrauterine Growth Restriction by Wendy Moh, John M. Graham, Isha Wadhawan, Pedro A. Sanchez-Lara

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Effects of celastrol on the heart and liver galaninergic system expression in a mouse model of Western-type diet-induced obesity and metabolic dysfunction-associated steatotic live... by Nikolina Canová, Jana Šípková, Mahak Arora, Zuzana Pavlíková, Zuzana Pavlíková, Tomáš Kučera, Ondřej Šeda, Tijana Šopin, Tomáš Vacík, Ondřej Slanař

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