Clinical characteristics of hereditary spherocytosis with red blood cell membrane protein gene variants by Jingying Cheng, Liqiang Zhang, Jiafeng Yao, Shasha Zhao, Jin Jiang

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Genetic trends and common BRCA1/2 pathogenic sequence variants in black African and Indian breast cancer patients presenting at Inkosi Albert Luthuli Central Hospital, KwaZulu-Nata... by M Makhetha, C Aldous, N Chabilal

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Germline BRCA testing in Denmark following invasive breast cancer: Progress since 2000 by Aleksandar M. Kostov, Maj-Britt Jensen, Bent Ejlertsen, Mads Thomassen, Caroline Maria Rossing, Inge S. Pedersen, Annabeth H. Petersen, Lise Lotte Christensen, Karin A.W. Wadt, Anne-Vibeke Lænkholm

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MIRAGE syndrome: a case report of de novo SAMD9 c.884del p.(Pro295GlnfsTer104) variant and a novel phenotype of pyloric stenosis by Mohamad M. Assker, Mahdia Al Haidar, Marwan Faris, Ahmed Emara, Yousef Al Abrach, Maryam Al Shehhi

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Primary Amenorrhea in a 15‐Year‐Old Girl Leading to the Diagnosis of Bardet‐Biedl Syndrome: A Case Report by Azka Noor, Digbijay Kunwar, Zahra Tasneem, Saad Ameer Ishaq

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Case studies in heritable vascular disease: Proceedings of the UTHealth Houston Multidisciplinary Aortic Conference by Milan Jaiswal, BA, Lucas Ribe, MD, Rana O. Afifi, MD, Yuki Ikeno, MD, Alana C. Cecchi, MS, Bihong Zhao, MD, PhD, Akiko Tanaka, MD, PhD, Gustavo S. Oderich, MD, L. Maximilian Buja, MD, Dianna M. Milewicz, MD, PhD, Siddharth K. Prakash, MD, PhD, Anthony L. Estrera, MD

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Comparative genetic diagnostic evaluation of pediatric neuromuscular diseases in a consanguineous population by Abdullah Al-Hedaithy, Fouad Alghamdi, Momen Almomen, Fawzia Amer, Shaikhah Al Dossari, Deeba Noreen Baig, Shahid Bashir

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Risk factors associated with pregnancy loss after single euploid blastocysts transfer by Xiaohui Dong, Juanzi Shi, Xiaohua Liu, Danmeng Liu, Wei Li, Xiaoli Zhao, Xia Xue

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Prenatal Detection of Silver–Russell Syndrome: A First Trimester Suspicion and Diagnostic Approach by Slavyana Galeva, Giuliana Diglio, Boris Stoilov, Ekaterina Uchikova, Lucian Pop

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The role of the patients register in early diagnostics of familial adenomatosis coli by A. M. Kuzminov, A. V. Karpuhin, Yu. Yu. Chubarov, I. Yu. Sachkov, T. A. Savel’yeva

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Clinical and genetic characteristics and medical approach in attenuated form of familial adenomatosis of the colon by A. M. Kuzminov, A. V. Karpukhin, I. Yu. Sachkov, Yu. Yu. Chubarov, T. A. Savel’yeva

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Lymphoproliferation and hyper-IgM as the first manifestation of activated phosphoinositide 3-kinase δ syndrome: A case report by Mónica Fernandes-Pineda, Andrés F. Zea-Vera

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Impact of blastocyst biopsy for preimplantation genetic testing on maternal and neonatal outcomes following single frozen embryo transfer cycles by Tingting He, Wenhao Shi, Xia Xue, Juanzi Shi

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Diagnosis, screening, and follow-up of patients with familial interstitial lung disease: Results from an international survey by Emil Vilstrup Moen, Thomas Skovhus Prior, Michael Kreuter, Wim A. Wuyts, Maria Molina-Molina, Marlies Wijsenbeek, Antonió Morais, Argyrios Tzouvelekis, Christopher J. Ryerson, Fabian Caro, Ivette Buendia-Roldan, Jesper M. Magnusson, Joyce S. Lee, Julie Morisett, Justin M. Oldham, Lauren K. Troy, Manuela Funke-Chambour, Maria Laura Alberti, Raphael Borie, Simon L. F. Walsh, Sujeet Rajan, Yasuhiro Kondoh, Yet H Khor, Elisabeth Bendstrup

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Preimplantation aneuploidy screening using embryonic cell-free DNA isolated from spent culture medium: a case report by Lama Khudari, Marwan Halabi, Sahar Al Fahoum

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A study to identify individuals at risk to be affected by late-onset Pompe disease who had previously been given a non-specific or tentative diagnosis for their muscle weakness (Po... by Dawn A. Laney, Kayla A. Banks, Eleanor G. Botha, Maria Keever, Valynne Long, Allison L. Foley

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Case report: identification of novel variant in SLC26A2 gene and preimplantation genetic testing for monogenic disorders in preventing diastrophic dysplasia by Ziravard N. Tonyan, Yulia A. Nasykhova, Maria M. Danilova, Elena S. Shabanova, Olesya N. Bespalova, Igor Y. Kogan, Andrey S. Glotov

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Influence of the Sex of Translocation Carrier on Clinical Outcomes of Couples Undergoing Preimplantation Genetic Testing by Zhiping Zhang, Jiayao Chen, Lei Zhang, Ruiyang Wei, Zhen Liu, Dunmei Zhao, Xingyu Bi, Lixia Liang, Xueluo Zhang, Dan Su, Xueqing Wu

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Prolonged Honeymoon Phase in Adult-Onset Type 1 Diabetes Mellitus: A Case Study by Pranjali Shah

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A Cross-sectional Survey of Physicians to Understand Biomarker Testing and Treatment Patterns in Patients with Prostate Cancer in the USA, EU5, Japan, and China by Christian Gratzke, Himani Aggarwal, Jeri Kim, Holly Chaignaud, Sabine Oskar

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