BRCA2 Heterozygosity Delays Cytokinesis in Primary Human Fibroblasts by Asta Björk Jonsdottir, Maaike P. G. Vreeswijk, Ron Wolterbeek, Peter Devilee, Hans J. Tanke, Jorunn E. Eyfjörd, Karoly Szuhai

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Analysis and prediction of condylar resorption following orthognathic surgery by Pieter-Jan Verhelst, Sigrid Janssens, Harold Matthews, Giacomo Begnoni, Peter Claes, Eman Shaheen, Hilde Peeters, Constantinus Politis, Reinhilde Jacobs

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A case of severe Aicardi–Goutières syndrome with a homozygous RNASEH2B intronic variant by Yuri Shibata, Akimichi Shibata, Takeshi Mizuguchi, Naomichi Matsumoto, Hitoshi Osaka

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Bartsocas-Papas Syndrome: Unusual Findings in the First Reported Egyptian Family by E. M. Abdalla, H. Morsy

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Multi-omics analysis in inclusion body myositis identifies mir-16 responsible for HLA overexpression by Daphne Wijnbergen, Mridul Johari, Ozan Ozisik, Peter A.C. ‘t Hoen, Friederike Ehrhart, Anaïs Baudot, Chris T. Evelo, Bjarne Udd, Marco Roos, Eleni Mina

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Monitoring M-Protein, Therapeutic Antibodies, and Polyclonal Antibodies in a Multiparametric Mass Spectrometry Assay Provides Insight into Therapy Response Kinetics in Patients wit... by Charissa Wijnands, Peter G. A. Karel, Jolein Gloerich, Gad Armony, Anastasia Tzasta, Corrie M. de Kat Angelino, Luciano Di Stefano, Vincent Bonifay, Theo M. Luider, Martijn M. VanDuijn, Sandra J. Croockewit, Elizabeth A. de Kort, Daan A. R. Castelijn, Claudia A. M. Stege, Hans J. C. T. Wessels, Alain J. van Gool, Niels W. C. J. van de Donk, Joannes F. M. Jacobs

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Freeman–Sheldon Syndrome: First Molecularly Confirmed Case from Sub-Saharan Africa by A. M. Ali, R. M. Mbwasi, G. Kinabo, E.-J. Kamsteeg, B. C. Hamel, M. C. J. Dekker

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Short Stature on a Boy: Mosaicism with an Isodicentric Y Chromosome by Catarina Silvestre, Juliette Dupont, Rosário Silveira Santos, Brígida Robalo, Carla Pereira, Maria Lurdes Sampaio

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Cardiovascular Risk Factors and Distributions of the Ankle-Brachial Index among Type 2 Diabetes Mellitus Patients by Badaruddoza Doza, Manpreet Kaur, Sonia Chopra, Rohit Kapoor

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In Utero Nutritional Manipulation Provokes Dysregulated Adipocytokines Production in F1 Offspring in Rats by Mervat Y. Hanafi, Mohamed I. Saad, Taha M. Abdelkhalek, Moustafa M. Saleh, Maher A. Kamel

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Microcephalic osteodysplastic primordial dwarfism type II in four Indian children with PCNT variants by Amit Singh, Mahak Garg, Mohammed Shariq, Preeti Khetarpal, Inusha Panigrahi

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Validation of a hypomorphic variant in CDK13 as the cause of CHDFIDD with autosomal recessive inheritance through determination of an episignature by Jan Fischer, Mariëlle Alders, Marcel M. A. M. Mannens, David Genevieve, Karl Hackmann, Evelin Schröck, Bekim Sadikovic, Joseph Porrmann

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dotears: Scalable and consistent directed acyclic graph estimation using observational and interventional data by Albert Xue, Jingyou Rao, Sriram Sankararaman, Harold Pimentel

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Multiple intracerebral hematomas during SEEG recording and intradural hemorrhage after spinal tap: A case report prompting more research on collagen IV gene mutation and oral nicot... by Markus Leitinger, Serena Broggi, Mathias Spendel, Gudrun Kalss, Ivan Petrović, Herbert Krainz, Fabio Rossini, Julia Höfler, Andreea Toma, Giorgi Kuchukhidze, Matthias Mauritz, Kai‐Nicolas Poppert, Bernardo Crespo‐Pimentel, Pilar Bosque‐Varela, Anna Pleyers, Patricia Ganger, Dieter Kotzot, Davor Lessel, Christoph J. Griessenauer, Eugen Trinka

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A 3D Clinical Face Phenotype Space of Genetic Syndromes Using a Triplet-Based Singular Geometric Autoencoder by Soha S. Mahdi, Eduarda Caldeira, Harold Matthews, Michiel Vanneste, Nele Nauwelaers, Meng Yuan, Giorgos Bouritsas, Gareth S. Baynam, Peter Hammond, Richard Spritz, Ophir D. Klein, Michael Bronstein, Benedikt Hallgrimsson, Hilde Peeters, Peter Claes

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Human Brain Organoid: A Versatile Tool for Modeling Neurodegeneration Diseases and for Drug Screening by Cuili Ma, Hwanwook Seong, Xiaowei Li, Xiao Yu, Shunliang Xu, Yujing Li

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Silymarin: a promising modulator of apoptosis and survival signaling in cancer by Ujjawal Sharma, Praveen Kumar Sahni, Bunty Sharma, Madhu Gupta, Damandeep Kaur, Darin Mansor Mathkor, Shafiul Haque, Sabiha Khatoon, Hardeep Singh Tuli, Astha Mishra, Faraz Ahmad

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PHARC syndrome: an overview by Lusine Harutyunyan, Patrick Callaerts, Sascha Vermeer

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X-Linked Autism Type 9 Caused by a Hemizygote Pathogenic Variant in the TMLHE Gene: Etiological Diagnosis in an Adult Male with Moderate Intellectual Disability by Verhoeven WM, Pfundt R, Engelke UF, Kluijtmans LA, Egger JI

“…Willem MA Verhoeven,1– 3 Rolph Pfundt,4,5 Udo FH Engelke,6 Leo AJ Kluijtmans,6 Jos IM Egger3– 5 1Department of Psychiatry, Erasmus University Medical Center, Rotterdam, The Netherlands; 2Centre for Consultation and Expertise, Utrecht, The Netherlands; 3Vincent van Gogh Centre of Excellence for Neuropsychiatry, Venray, The Netherlands; 4Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands; 5Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands; 6Department of Human Genetics, Translational Metabolic Laboratory, Radboud University Medical Centre, Nijmegen, The NetherlandsCorrespondence: Willem MA Verhoeven, Email wmaverhoeven@planet.nlIntroduction: Levocarnitine is essential for brain functioning and fatty acid metabolism and stems largely from dietary sources. …”
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Rare Manifestation of a c.290 C>T, p.Gly97Glu VCP Mutation by Nivedita U. Jerath, Cameron D. Crockett, Steven A. Moore, Michael E. Shy, Conrad C. Weihl, Tsui-Fen Chou, Tiffany Grider, Michael A. Gonzalez, Stephan Zuchner, Andrea Swenson

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