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Medical Genetics

Scholars81
Papers33
Citations0
Related Papers (33)
Publication Date
Ophthalmic involvement in VEXAS syndrome and its influence on mortality: insights from the international AIDA network registry
err2026-06-19
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errJS Jurgen Sota; AH Andrea Hinojosa-Azaola; EM Eduardo Martín-Nares; PS Paolo Sfriso; SB Sara Bindoli; PH Pravin Hissaria; MB Mark Beecher; JH José Hernández-Rodríguez; VG Verónica Gómez-Caverzaschi; MF Micol Frassi; FC Francesca Crisafulli; LD Lorenzo Dagna; CC Corrado Campochiaro; SB Serena Bugatti; AM Alessandra Milanesi; GR Guillermo Ruiz-Irastorza; AS Adriana Soto-Peleteiro; MP Matteo Piga; OV Ombretta Viapiana; AT Abdurrahman Tufan; EC Ertugrul Cagri Bolek; PT Paola Triggianese; MP Marcella Prete; JS Jessica Sblachiero; VC Valeria Caggiano; AV Antonio Vitale; HA Henrique Ayres Mayrink Giardini; GL Giuseppe Lopalco; FC Fabrizio Conti; PM Paolo Moscato; CC Chiara Cardamone; EW Ewa Wiesik-Szewczy; AG Andrés González-García; AD Amato De Paulis; RV Rosetta Vitetta; PA Perla Ayumi Kawakami-Campos; AB Alessandra Brancaleoni; AM Andrea Mercanti; AR Alessandra Renieri; MB Monica Bocchia; GR Gaafar Ragab; VG Vishali Gupta; AD Alejandra de-la-Torre; BF Bruno Frediani; CG Carmelo Gurnari; LC Luca Cantarini; CF Claudia Fabiani
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European Reference Networks as core health structures where referring genetic newborn screening positive infants: an innovative operational research framework
err2026-06-11
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errFF Fernanda Fortunato; RS Rita Selvatici; JK Jan Kirschner; SS Stefaan Sansen; EA Emanuele Agolini; SO Silvia Ottombrino; EB Enrico Bertini; AN Antonio Novelli; ME Moshe Einhorn; LM Leslie Matalonga; SB Sergi Beltran; IG Ivo G. Gut; AM Alberto M. Pereira; OH Olaf Hiort; FS Franz Schaefer; AV Alain Verloes; AW Ansgar W. Lohse; AA Arthur A. M. Wilde; CB Christine Bodemer; GJ Guillaume Jondeau; HD Hélène Dollfus; HG Holm Graessner; IM Irene M. J. Mathijssen; IL Ikram L'khssim; JB Jean-Yves Blay; LS Luca Sangiorgi; PF Pierre Fenaux; MD María del Mar Mañú Pereira; VG Victoria Gutiérrez Valle; MM Marta Mosca; NH Nicoline Hoogerbrugge; RW Rene Wijnen; TE Teresinha Evangelista; CD Carla D'Angelo; TO Thomas O. F. Wagner; WF Wout F. J. Feitz; RL Ruth Ladenstein; ZD Zoltan Dobai; NW Nico Wulffraat; NR Nicola Ruperto; PJ Paloma Jara Vega; CM Cinzia Maria Bellettato; MS Maurizio Scarpa; MO Michela Onali; ST Sébile Tchaicha; AA Alexis Arzimanoglou; JO Jun Oh; DL Dominic Lenz; BT Birute Tumiene; AZ Aldona Zygmunt; AF Alessandra Ferlini
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The impacts of caring for children with inherited metabolic diseases for families: a cross-sectional study
err2026-06-10
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errAndrea J. Chow; Isabel Jordan; Nicole Pallone; Maureen Smith; Pranesh Chakraborty; Jamie Brehaut; Alicia K. J. Chan; Eyal Cohen; Sarah Dyack; Ian D. Graham; Cheryl R. Greenberg; Robin Hayeems; Michal Inbar-Feigenberg; Shailly Jain-Ghai; Sara Khangura; Jennifer J. MacKenzie; Nathalie Major; John J. Mitchell; Stuart G. Nicholls; Amy Pender; Murray Potter; Chitra Prasad; Andreas Schulze; Komudi Siriwardena; Kathy N. Speechley; Sylvia Stockler; Monica Taljaard; Yannis Trakadis; Jagdeep Walia; Kumanan Wilson; Beth K. Potter
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Gut fungal signatures in colorectal cancer and their potential for supporting diagnosis: a multi-cohort metagenomic analysis
err2026-06-10
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errZhihang Zhang; Tong Lu; Bo Dong; Jin Liu; Yue Zhang; Shenghui Li; Hengming Liu; Xin Li; Tianyu Guan; Hongxing Guo; Qiulong Yan; Zhixin Lei; Xiaofei Yu; Leyi Wang; Jian Kang; Linlin Li; Deyu Zhao
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A Homozygous Missense COL1A1 Variant (p.Glu684Lys) Associated with an Arthrochalasia-like Ehlers–Danlos Syndrome Phenotype: A Case Report
errGenes
IF2.8
err2026-06-10
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errTatiana Markova; Evgeniya Melnik; Maksim Kurelev; Tatiana Cherevatova; Alexandra Nikolaeva; Daria Gorodilova; Nina Demina; Elena Dadali
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Tetraploidy in cancer: Diagnostic and therapeutic perspectives
err2026-06-10
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errAline Lessa; Romain Levergeois; Javier Muños-Garcia; Joshua Mountford; Jorge William Vargas-Franco; Denis Cochonneau; Axelle Renodon-Cornière; Marie-Françoise Heymann; Irina Giurgea; Dominique Heymann; Frédéric Lézot
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Molecular interplay between Non-coding RNAs and BDNF in Neurodegenerative Disorders: a systematic review
err2026-06-06
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PREAI
errAbbas Jalaiei; Amir Hossein Kiani Darabi; Ehsan Sakkaki; Maryam Rezazadeh; Soudeh Ghafouri-Fard
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Genetic heterogeneity correlated with phenotypic variability in 6 Chinese families with Alport syndrome
err2026-06-05
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errJG Jinghan Gao †; HZ Huan Zhou †; LZ Li Zhang; ZS Zihan Su; SL Shiguo Liu
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Correction: Recessive congenital methemoglobinemia: a systematic review of reported cases
err2026-06-05
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errJulie Neven; Tessi Beyltjens; Marije Meuwissen; Barbara De Bisschop; Jason Bouziotis; Machiel van den Akker
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Reduced serum cortisol; IGF-1; GLP-1; and T3 levels in medication-free children and adolescents with obsessive–compulsive disorder: a case–control study
err2026-06-03
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errFC Fatma Coşkun; HA Hasibe Ağır; RE Rukiye Esra Ildız; İK İbrahim Kılınç; NU Necati Uzun; EG Emine Göktaş; AO Ahmet Osman Kılıç
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Mitofusins are required for specialized mitochondrial morphology and function of rod photoreceptor cells
err2026-06-03
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errML Michael Landowski †; RH Ryo Hagimori †; PG Purnima Gogoi; PK Pawan K. Shahi; KO Kazuya Oikawa; VJ Vijesh J. Bhute; GJ Gillian J. McLellan; SI Sakae Ikeda; KY Ken-ichi Yamada; BR Bikash R. Pattnaik; TT Tetsuya Takimoto; AI Akihiro Ikeda
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Lymphocyte subsets in untreated thalassemia patients: differences by genotype and age
err2026-06-03
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errRZ Renbin Zhao †; XY Xiangmei Yao †; SF Shuai Feng †; PH Peng Hu; YZ Yunlian Zou; ZY Zefeng Yang; JZ Jinping Zhang; XG Xin Guan; CZ Chaoran Zhang; ZW Zhongyu Wang; JZ Jie Zhang; ZL Zengzheng Li; YW Yajie Wang
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Novel pathogenic variant in ARMC4 identified by whole exome sequencing in a Turkish family with primary ciliary dyskinesia
err2026-06-02
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errEA Elif Arik Sever; RH Rim Hjeij; PA Pınar Ata; EE Ela Erdem Eralp; EA Emine Atag; HO Heymut Omran; BT Bulent Taner Karadaǧ; OU Osman Ugur Sezerman
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Assessing the contribution of rare variants to congenital heart disease through a large-scale case-control exome study
err2026-06-02
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errEnrique Audain; Anna Wilsdon; Gregor Dombrowsky; Alejandro Sifrim; Jeroen Breckpot; Yasset Perez-Riverol; Siobhan Loughna; Allan Daly; Pavlos Antoniou; Philipp Hofmann; Amilcar Perez-Riverol; Anne-Karin Kahlert; Ulrike Bauer; Thomas Pickardt; Sabine Klaassen; Felix Berger; Ingo Daehnert; Sven Dittrich; Brigitte Stiller; Hashim Abdul-Khaliq; Frances Bu’lock; Anselm Uebing; Hans-Heiner Kramer; Vivek Iyer; Lars Allan Larsen; J. David Brook; Marc-Phillip Hitz
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Gabapentin and Pregabalin Use in First Trimester of Pregnancy and Risk of Specific Congenital Anomalies: An IMI ConcePTION European Case-Malformed Control Study
err2026-06-02
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errAnna-Belle Beau; Erika Cifuentes Castro; Justine Benevent; Marie Beslay; Laia Barrachina-Bonet; Jorieke E. H. Bergman; Clara Cavero-Carbonell; Alessio Coi; Helen Dolk; Ester Garne; Miriam Gatt; Jonathan Hoareau; Elly Den Hond; Anna Latos-Bielenska; Nathalie Lelong; Mary O’Mahony; Xavier Moisset; Joan Morris; Amanda J. Neville; Joanna Sichitiu; Maria Loane; Christine Damase-Michel
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Beyond wound closure: translational opportunities and barriers of mesenchymal stem cells and their extracellular vesicles in burn management
err2026-05-28
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errYW Yuying Wang †; JL Junyan Li †; LZ Liyuan Zhang; JL Juan Liu; XS Xin Shu; ZD Zhuo Ding; SX Shangfu Xu
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FLNB and TTC26 regulate ciliary Hedgehog signaling to maintain intervertebral disc matrix homeostasis in adolescent idiopathic scoliosis
err2026-05-25
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errHeng Jiang; Yuan Gao; Bowen Lai; Jinhui Wu; Taotao Liao; Zheng Zhang; Xin Zhou; Jianquan Zhao; Yichen Meng; Zhuyun Cai; Chenglin Zhang; Suomei Lai; Rui Gao; Ce Wang; Jinsong Li; Fu Yang; Yifu Ding; Xuhui Zhou
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Episignature leads to diagnosis and reclassification of DYRK1A variant in a child with syndromic neurodevelopmental disorder: a case report
err2026-05-22
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errIA Inas Al-Younis †; LB Laurence Basque †; NC Nicolas Crapoulet; SD Sarah Dyack; FD Francisco del Caño-Ochoa; SR Santiago Ramón-Maiques; SB Sara B. MacKay; JR Jessica Rzasa; BS Bekim Sadikovic; HM Haley McConkey; MB Mouna Ben Amor
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De novo design of miniproteins targeting GPCRs
errNature
IF48.5
err2026-05-21
err0
PREAI
errEdin Muratspahić; David Feldman; David E. Kim; Xiangli Qu; Ana-Maria Bratovianu; Paula Rivera-Sánchez; Jan Hendrik Voss; Emil P. T. Hertz; Mads Jeppesen; Federica Dimitri; Kensuke Sakamoto; Amrita Nallathambi; Pia Peceli; Jianjun Cao; Brian P. Cary; Matthew J. Belousoff; Peter Keov; Phuc N. H. Trinh; Qingchao Chen; Yue Ren; Justyn Fine; Sudha Mishra; Annu Dalal; Shachie Sinha; Ramanuj Banerjee; Manisankar Ganguly; Karthik Varappalayam Karuppusamy; Isaac Sappington; Thomas Schlichthaerle; Jason Z. Zhang; Arvind Pillai; Brian Coventry; Ljubica Mihaljević; Magnus Bauer; Susana Vázquez Torres; Amir Motmaen; Gyu Rie Lee; Long Tran; Xinru Wang; Inna Goreshnik; Dionne K. Vafeados; Justin E. Svendsen; Parisa Hosseinzadeh; Nicolai Lindegaard; Matthäus Brandt; Yann Waltenspühl; Kristine Deibler; Lukas Deweid; Anja Bennett; Jendrik Schöppe; Tiantang Dong; Xiaoli Yan; Luke Oostdyk; William Cao; Lakshmi Anantharaman; Johan J. Weisser; Jesper Frank Bastlund; Christoffer Bundgaard; Ayodeji A. Asuni; Justin G. English; Lance Stewart; Lauren Halloran; Jamie B. Spangler; André Lieber; Arun K. Shukla; Patrick M. Sexton; Bryan L. Roth; Brian E. Krumm; Denise Wootten; Christopher G. Tate; Christoffer Norn; David Baker
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