Zoekresultaten - "monogenism"

Intrauterine IPEX door Magda Carneiro-Sampaio, Carlos Alberto Moreira-Filho, Silvia Yumi Bando, Jocelyne Demengeot, Antonio Coutinho

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Lay perceptions of predictive testing for diabetes based on DNA test results versus family history assessment: a focus group study door Cornel Martina C, Timmermans Danielle RM, Dondorp Wybo J, Wijdenes-Pijl Miranda, Henneman Lidewij

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Identification of deleterious variants in patients with male infertility due to idiopathic non-obstructive azoospermia door Dongdong Tang, Kuokuo Li, Hao Geng, Chuan Xu, Mingrong Lv, Yang Gao, Guanxiong Wang, Hui Yu, Zhongmei Shao, Qunshan Shen, Hui Jiang, Xiansheng Zhang, Xiaojin He, Yunxia Cao

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Neuronal E93 is required for adaptation to adult metabolism and behavior door Cecilia Yip, Steven C. Wyler, Katrina Liang, Shin Yamazaki, Tyler Cobb, Maryam Safdar, Aarav Metai, Warda Merchant, Robert Wessells, Adrian Rothenfluh, Syann Lee, Joel Elmquist, Young-Jai You

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Vasculitis in a patient with mevalonate kinase deficiency (MKD): a case report door Ebun Omoyinmi, Dorota Rowczenio, Neil Sebire, Paul A. Brogan, Despina Eleftheriou

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Maternal occupational exposure and oral clefts in offspring door Nynke Spinder, Jorieke E. H. Bergman, H. Marike Boezen, Roel C. H. Vermeulen, Hans Kromhout, Hermien E. K. de Walle

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Insulin regulates human pancreatic endocrine cell differentiation in vitro door Perla Cota, Özüm Sehnaz Caliskan, Aimée Bastidas-Ponce, Changying Jing, Jessica Jaki, Lama Saber, Oliver Czarnecki, Damla Taskin, Anna Karolina Blöchinger, Thomas Kurth, Michael Sterr, Ingo Burtscher, Natalie Krahmer, Heiko Lickert, Mostafa Bakhti

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Specialist physicians' referral behavior regarding preimplantation genetic testing for single-gene disorders: Is there room to grow? door Sarah Capelouto, M.D, Melanie Evans, M.D, Jennifer Shannon, M.D, Katelyn Jetelina, Ph.D., M.P.H, Orhan Bukulmez, M.D, Bruce Carr, M.D

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Novel Mutations in Obesity-related Genes in Turkish Children with Non-syndromic Early Onset Severe Obesity: A Multicentre Study door Ayşehan Akıncı, Doğa Türkkahraman, İbrahim Tekedereli, Leyla Özer, Bahri Evren, İbrahim Şahin, Tarkan Kalkan, Yusuf Çürek, Emine Çamtosun, Esra Döğer, Aysun Bideci, Ayla Güven, Erdal Eren, Özlem Sangün, Atilla Çayır, Pelin Bilir, Ayça Törel Ergür, Oya Ercan

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Setmelanotide - from genes to targeted therapy in some rare forms of obesity door Dawid Frączkowski

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Nephronophthisis door Hee Gyung Kang, Hae Il Cheong

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Genetic and immunologic findings in children with recurrent aphthous stomatitis with systemic inflammation door Martina Girardelli, Erica Valencic, Valentina Moressa, Roberta Margagliotta, Alessandra Tesser, Serena Pastore, Ottavia Spadola, Emmanouil Athanasakis, Giovanni Maria Severini, Andrea Taddio, Alberto Tommasini

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Whole genome sequencing diagnostic yield for paediatric patients with suspected genetic disorders: systematic review, meta-analysis, and GRADE assessment door Mario Cesare Nurchis, Gerardo Altamura, Maria Teresa Riccardi, Francesca Clementina Radio, Giovanni Chillemi, Enrico Silvio Bertini, Jacopo Garlasco, Marco Tartaglia, Bruno Dallapiccola, Gianfranco Damiani

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At the intersection of precision medicine and population health: an implementation-effectiveness study of family health history based systematic risk assessment in primary care door Lori A. Orlando, R. Ryanne Wu, Rachel A. Myers, Joan Neuner, Catherine McCarty, Irina V. Haller, Melissa Harry, Kimberly G. Fulda, David Dimmock, Teji Rakhra-Burris, Adam Buchanan, Geoffrey S. Ginsburg

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Autoinflammatory syndromes: diagnosis and management door De Sanctis Sara, Nozzi Manuela, Del Torto Marianna, Scardapane Alessandra, Gaspari Stefania, de Michele Giuseppina, Breda Luciana, Chiarelli Francesco

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Contemporary Aspects of Endocrinology

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Genetic Basis of Steroid Resistant Nephrotic Syndrome door Eujin Park

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The Finnish genetic heritage in 2022 - from diagnosis to translational research door Johanna Uusimaa, Johannes Kettunen, Teppo Varilo, Irma Järvelä, Jukka Kallijärvi, Helena Kääriäinen, Minna Laine, Risto Lapatto, Päivi Myllynen, Harri Niinikoski, Elisa Rahikkala, Anu Suomalainen, Ritva Tikkanen, Henna Tyynismaa, Päivi Vieira, Tomas Zarybnicky, Petra Sipilä, Satu Kuure, Reetta Hinttala

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The Role of Vitamin A in Patients with Cystic Fibrosis door N.V. Rogovyk, L.Y. Bober

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Regulating complement in the kidney: insights from CFHR5 nephropathy door Daniel P. Gale, Matthew C. Pickering

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