Search Results - "genetic testing"

Alagille syndrome and a mutation: 41 cases of experience at a single center by Kyung Jin Ahn, Ja Kyoung Yoon, Gi Beom Kim, Bo Sang Kwon, Jung Min Go, Jin Su Moon, Eun Jung Bae, Chung Il Noh

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Multidisciplinary approach to Gorlin-Goltz syndrome: from diagnosis to surgical treatment of jawbones by Francesco Spadari, Federica Pulicari, Matteo Pellegrini, Andrea Scribante, Umberto Garagiola

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Morphological and genomic characterisation of the Schistosoma hybrid infecting humans in Europe reveals admixture between Schistosoma haematobium and Schistosoma bovis. by Julien Kincaid-Smith, Alan Tracey, Ronaldo de Carvalho Augusto, Ingo Bulla, Nancy Holroyd, Anne Rognon, Olivier Rey, Cristian Chaparro, Ana Oleaga, Santiago Mas-Coma, Jean-François Allienne, Christoph Grunau, Matthew Berriman, Jérôme Boissier, Eve Toulza

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Gaucher's disease in children: Case report from Afghanistan with literature review by Turyalai Hakimi, Omran Omar Amarkhil, Muhammad Arif Zamani, Mansoor Aslamzai, Salmai Turial, Mohammad Tareq Rahimi, Mohammad Anwar Jawed

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Next-generation sequencing with comprehensive bioinformatics analysis facilitates somatic mosaic APC gene mutation detection in patients with familial adenomatous polyposis by Borahm Kim, Dongju Won, Mi Jang, Hoguen Kim, Jong Rak Choi, Tae Il Kim, Seung-Tae Lee

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Endometriosis - Pathogenesis, diagnosis and treatment by Piotr Kwiatkowski, Konrad Gładysz, Justyna Szydłowska, Olga Żuchnik, Olgierd Król, Beata Kuczyńska, Magdalena Czelej, Aleksander Kłos, Krzysztof Gieroba, Marcin Szydłowski

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Case Report: Successful Management of a 29-Day-Old Infant With Severe Hyperlipidemia From a Novel Homozygous Variant of GPIHBP1 Gene by Shu Liu, Zhiqing Wang, Xianhua Zheng, Ye Zhang, Sisi Wei, Haimei OuYang, Jinqun Liang, Nuan Chen, Weihong Zeng, Jianhui Jiang

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Novel deep intronic mutation in the coagulation factor XIII a chain gene leading to unexpected RNA splicing in a patient with factor XIII deficiency by Jun Deng, Dan Li, Heng Mei, Liang Tang, Hua-fang Wang, Yu Hu

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Craniofacial Morphology and Upper Airway Dimensions in Patients with Hypermobile Ehlers-Danlos Syndrome Compared to Healthy Controls by Liselotte Sonnesen, Tessie Pawlik, Eva Fejerskov Lauridsen

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Clinical Genomic Sequencing Reports in Electronic Health Record Systems Based on International Standards: Implementation Study by Ryu, Borim, Shin, Soo-Yong, Baek, Rong-Min, Kim, Jeong-Whun, Heo, Eunyoung, Kang, Inchul, Yang, Joshua SungWoo, Yoo, Sooyoung

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A fatal case of neonatal onset multiple acyl-CoA dehydrogenase deficiency caused by novel mutation of ETFDH gene: case report by Loredana De Pasquale, Petronilla Meo, Francesco Fulia, Antonio Anania, Valerio Meli, Antonina Mondello, Maria Tindara Raimondo, Viviana Tulino, Maria Sole Coletta, Caterina Cacace

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Interactive Web-Based Resource for Annotation of Genetic Variants Causing Hereditary Angioedema (HADA): Database Development, Implementation, and Validation by Mendoza-Alvarez, Alejandro, Muñoz-Barrera, Adrián, Rubio-Rodríguez, Luis Alberto, Marcelino-Rodriguez, Itahisa, Corrales, Almudena, Iñigo-Campos, Antonio, Callero, Ariel, Perez-Rodriguez, Eva, Garcia-Robaina, Jose Carlos, González-Montelongo, Rafaela, Lorenzo-Salazar, Jose Miguel, Flores, Carlos

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Pulmonary hypertension- a novel phenotypic hypothesis of Kabuki syndrome: a case report and literature review by Xiao-xian Deng, Bo-wen Jin, Shan-shan Li, Hong-mei Zhou, Qun-shan Shen, Yun-yan Li

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Imaging Patterns in Breast Cancer for Women Under 40 Years: A Descriptive Cohort Study by Amal A. Alhaidary, Ahmad R. Al-Qudimat, Haitham Arabi, Raed M. Al-Zoubi

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Selected genetic factors increasing risk of neoplasia by Paweł Niewiadomski, Klaudia Mikołajczyk, Sebastian Rauhut, Krzysztof Stryjak, Maciej Lazarek, Bogusz Olszewski, Agata Sochań, Kornelia Kędziora-Kornatowska

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Gaucher disease - a comprehensive review of clinical characteristics, diagnostic algorythms and current therapies by Alicja Kotula, Natalia Kucy, Adrianna Czachor, Paula Kula, Mateusz Haber, Olga Grelewicz, Elwira Servaas, Adam Juśkiewicz, Alicja Pilcicka

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Saúde coletiva, nova genética e a eugenia de mercado Collective health, the new genetics, and market eugenics by Maria Helena Cabral de Almeida Cardoso, Luis David Castiel

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The Clinical Approach to Interstitial Lung Disease in Childhood: A Narrative Review Article by Simona Drobňaková, Veronika Vargová, László Barkai

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New insights on Noonan syndrome's clinical phenotype: a single center retrospective study by Francesco Baldo, Alice Fachin, Beatrice Da Re, Elisa Rubinato, Marco Bobbo, Egidio Barbi

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Contralateral Prophylactic Mastectomy among Women with Pathogenic Variants in BRCA1/2: Overall Survival, Racial, and Ethnic Differences by Sukh Makhnoon, Angelica M. Gutierrez Barrera, Roland Bassett, Aimaz Afrough, Isabelle Bedrosian, Banu K. Arun

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