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

Get full text

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

Get full text

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

Get full text

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

Get full text

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

Get full text

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

Get full text

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

Get full text

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

Get full text

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

Get full text

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. …”
Get full text

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

Get full text

Application of the New Classification on Patients with a Disorder of Sex Development in Indonesia by A. Zulfa Juniarto, Yvonne G. van der Zwan, Ardy Santosa, Remko Hersmus, Frank H. de Jong, Renske Olmer, Hennie T. Bruggenwirth, Axel P. N. Themmen, Katja P. Wolffenbuttel, Leendert H. J. Looijenga, Sultana M. H. Faradz, Stenvert L. S. Drop

Get full text

Mesenchymal stem cell‐derived exosomes mitigate amyloid β‐induced retinal toxicity: Insights from rat model and cellular studies by Amanda Qarawani, Efrat Naaman, Rony Ben‐Zvi Elimelech, Michal Harel, Shahaf Sigal‐Dror, Tali Ben‐Zur, Tamar Ziv, Daniel Offen, Shiri Zayit‐Soudry

Get full text

Unusual hypertrophic cardiomyopathy: case report of an early onset wild-type ATTR amyloidosis accompanied by a chromosomal duplication involving the MYH6 and MYH7 gene by Jassin Hamidi, Yvonne Hanel, Sven Dittmann, Wanda Maria Gerding, Huu Phuc Nguyen, Karin Klingel, Eric Schulze-Bahr

Get full text

Caution when using network partners for target identification in drug discovery by Dandan Tan, Yiheng Chen, Yann Ilboudo, Kevin Y.H. Liang, Guillaume Butler-Laporte, J. Brent Richards

Get full text

A Case of False Negative NIPT for Down Syndrome-Lessons Learned by Meagan Smith, Kimberly M. Lewis, Alexandrea Holmes, Jeannie Visootsak

Get full text

SDHAF2-Linked Metastatic Paraganglioma: A Case Report with Implications for Counseling and Follow-Up of Pathogenic SDHAF2 Variant Carriers by Monique A. M. de Jong, Eleonora P. M. Corssmit, Jeroen C. Jansen, Thomas P. Potjer, Jean-Pierre L. Bayley, Erik F. Hensen

Get full text

AI-based analysis of fetal growth restriction in a prospective obstetric cohort quantifies compound risks for perinatal morbidity and mortality and identifies previously unrecogniz... by Raquel M. Zimmerman, Edgar J. Hernandez, Mark Yandell, Martin Tristani-Firouzi, Robert M. Silver, William Grobman, David Haas, George Saade, Jonathan Steller, Nathan R. Blue

Get full text

“A Dangerous Black Box:” Idiopathic Hemophagocytic Lymphohistiocytosis in Adult Patients—A Case Report and Review of the Literature by Nada Agbariah, Javier Sanz, Alicia Rovó

Get full text

A Report on a Family with TMTC3-Related Syndrome and Review by Sayeeda Hana, Deepak karthik, Jingxuan Shan, Stephany El Hayek, Lotfi Chouchane, André Megarbane

Get full text