Results 211 to 220 of about 127,509 (268)

<italic>WT1</italic> Deletion in 46,XY DSD: The Importance of Copy Number Variant Analysis.

Sex Dev
Atlas G, Bell KM, Robevska G, van den Bergen J, Hadiprajitno PI, Listyasari N, Santosa A, Juniarto AZ, Francis DI, O Apos Connell MA, Tan TY, Tucker E, Faradz SMH, Sinclair A, Ayers K.   +14 more
europepmc   +1 more source

Expanding the Spectrum of <i>BCAP31</i>-Associated Diseases: Early-Onset Parkinson Disease. [PDF]

Neurol Genet
Ishiguro M, Funayama M, Park DH, Hatano T, Nakazato T, Luo Y, Osawa M, Li Y, Yoshino H, Hattori N, Kanai K.   +10 more
europepmc   +1 more source

Molecular Tumor Boards in Malignant Melanoma: Uncovering Challenges and Opportunities in a Bicenter Retrospective Analysis in Germany

International Journal of Cancer, EarlyView.
Molecular tumor boards (MTB), interdisciplinary teams that use tumor genomic data to guide personalized treatment decisions, have emerged as a promising strategy in melanoma care, although their real‐world clinical impact remains uncertain. This retrospective study evaluated advanced melanoma patients to assess molecularly guided treatment ...
Glenn Geidel, Theresa Lowinus, Patrick Metzger, Rebecca Czurda, Vincent Schipperges, Ulrike Paul, Alessandra Rünger, Julian Kött, Isabel Heidrich, Saskia Lehr, Julia Kühn, Heiko Becker, Cornelius Miething, Martin Werner, Silke Laßmann, Justus Duyster, Tilman Brummer, Ronald Simon, Winfried Alsdorf, Maximilian Christopeit, Carsten Bokemeyer, Kilian Eyerich, Stefan W. Schneider, David Rafei, Melanie Börries, Frank Meiss, Christoffer Gebhardt   +26 more
wiley   +1 more source

Novel pathogenic variant in <i>ARMC4</i> identified by whole exome sequencing in a Turkish family with primary ciliary dyskinesia. [PDF]

Front Mol Biosci
Sever EA, Hjeij R, Ata P, Eralp EE, Atag E, Omran H, Karadaǧ BT, Sezerman OU.   +7 more
europepmc   +1 more source

Prenatal screening and diagnostic strategies for fetal genetic abnormalities: Comparison of international clinical guidelines

International Journal of Gynecology &Obstetrics, EarlyView.
Abstract This study compares recommendations from international clinical guidelines regarding prenatal screening and diagnostic testing for fetal genetic abnormalities, including the role of non‐invasive prenatal testing (NIPT), invasive diagnostic procedures, and advanced genomic technologies.
Geovanna Saboia Veras, João Renato Bennini   +1 more
wiley   +1 more source

Identification of Two Novel Variants in <i>CRYGD</i> and <i>OCRL</i> Genes in the Chinese Population With Hereditary Congenital Cataracts Using Whole Exome Sequencing. [PDF]

Hum Mutat
Zhuang J, Huang N, Chen YE, Lou H, Wang J, Fu W, Chen C.   +6 more
europepmc   +1 more source

Minimally Invasive Sampling for Molecular Profiling of Lymph Nodes Using a Modified Acupuncture Needle

iMetaMed, EarlyView.
Schematic illustration of the preparation of His@PDA@Needle, a modified acupuncture needle designed for minimally invasive sampling of lymph node‐derived DNA for molecular profiling. ABSTRACT Current clinical liquid biopsy approaches predominantly rely on blood‐derived biomarkers, which are often limited in sensitivity.
Baiping Cui, Mingyu Li, Pingzhu Zhou, Lihfeng Cheow, Hailong Ma, Dongdong Liu   +5 more
wiley   +1 more source

An unusual combination of latent autoimmune diabetes in young and maturity-onset diabetes in young. [PDF]

JCEM Case Rep
Bora A, Manasa CVS, Alekya LAV, Mashetty S, Guddeti A, Hari Kumar KVS.   +5 more
europepmc   +1 more source

Wekemo Bioincloud 2026: An AI‐enabled platform for standardized multi‐omics data analyses

iMeta, EarlyView.
An AI‐powered multi‐omics cloud platform integrating 41 standardized workflows, 126 visualization tools, and full‐lifecycle research intelligence to enable accessible, reproducible, and end‐to‐end integrative multi‐omics analysis. Abstract The rapid expansion of multi‐omics data has created an increasing demand for accessible and reproducible platforms
Yunyun Gao, Guoxing Zhang, Chengrui Wang, Hao Xu, Zhanhui Yu, Shunyao Jiang, Yong‐Xin Liu   +6 more
wiley   +1 more source