Results 201 to 210 of about 7,742,036 (343)

Anaysis of the association between chromosomal abnormalities in early missed abortion embryos and maternal age and AMH levels based on CNV-Seq. [PDF]

BMC Pregnancy Childbirth
Huang S, Huang T, Liu D, Yuan H, Zhou Y, Zeng B, Bai G.   +6 more
europepmc   +1 more source

Clinically Relevant Outcome Measures in Women With Adrenoleukodystrophy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Adrenoleukodystrophy is a rare inherited peroxisomal disease caused by pathogenic variants in the ABCD1 gene located on the X chromosome. Although the most severe central nervous system and adrenal complications typically affect only men with adrenoleukodystrophy, the majority of women develop myeloneuropathy symptoms in adulthood.
Chenwei Yan, Elizabeth I. Pierpont, Amena S. Fine, Reena V. Kartha   +3 more
wiley   +1 more source

The value of quantitative fluorescence polymerase chain reaction for the products of conception in the era of copy number variation sequencing. [PDF]

Front Genet
Yang S, Zhang H, Wang Y, Zhang Q, Wu Y, Fu X, Li R.   +6 more
europepmc   +1 more source

Remote Assessment of Ataxia Severity in SCA3 Across Multiple Centers and Time Points

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Spinocerebellar ataxia type 3 (SCA3) is a genetically defined ataxia. The Scale for Assessment and Rating of Ataxia (SARA) is a clinician‐reported outcome that measures ataxia severity at a single time point. In its standard application, SARA fails to capture short‐term fluctuations, limiting its sensitivity in trials.
Marcus Grobe‐Einsler, Vivian Maas, Arian Taheri Amin, Jennifer Faber, Tamara Schaprian, Katharina Hill, Matthis Synofzik, Lisa H. Graf, Heike Jacobi, Manuela Lima, Ana F. Ferreira, Bart P. van de Warrenburg, Ilse H. J. Willemse, Dagmar Timmann, Andreas Thieme, Paola Giunti, Hector Garcia‐Moreno, Magda M. Santana, Jeannette Hübener‐Schmid, Elin H. Davies, Thomas Klockgether   +20 more
wiley   +1 more source

Gain/Amplification 17p as a Potential Favorable Prognostic Factor in Multiple Myeloma: A Real-World Settings Retrospective Study. [PDF]

EJHaem
Wang T, Cui S, Wang J, Liu Z, Liu K, Wang Z, Tang X, Liu D, Wang Y, Xu R.   +9 more
europepmc   +1 more source

Abnormal micturition and recurrent cystitis associated with multiple congenital anomalies of the urinary tract in a dog [PDF]

, 1995
Karen Swalec Tobias, David D. Barbee
openalex   +1 more source

BCR/ABL induces multiple abnormalities of cytoskeletal function.

Journal of Clinical Investigation, 1997
Ravi Salgia, Jian-liang Li, D. S. Ewaniuk, W. Pear, E. Pisick, Stephen A. Burky, T. Ernst, M. Sattler, Lanren Chen, James D. Griffin   +9 more
semanticscholar   +1 more source

Diffusion Spectrum Imaging Maps Early Axonal Loss and a Unique Progressive Signal in Neuronal Intranuclear Inclusion Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To delineate specific in vivo white matter pathology in neuronal intranuclear inclusion disease (NIID) using diffusion spectrum imaging (DSI) and define its clinical relevance. Methods DSI was performed on 42 NIID patients and 38 matched controls.
Kaiyan Jiang, Yixiu Pei, Xiaobao Hu, Ying Xiong, Fang Wang, Yanyan Yu, Min Zhu, Dandan Tan, Meihong Zhou, Daojun Hong, Fuqing Zhou   +10 more
wiley   +1 more source

Aplasia Cutis Congenita and Congenital Heart Disease: A Case Report, Highlighting the Limitation of Antenatal Screening. [PDF]

Am J Case Rep
Halawani LK.
europepmc   +1 more source

Glycoproteomic analysis of abnormal N-glycosylation on the kappa chain of cryocrystalglobulin in a patient of multiple myeloma

, 2009
Tosifusa Toda, Megumi Nakamura, Masaki Yamada, Tsutomu Nishine, Tomohiro Torii, Kazuhiro Ikenaka, Ryo Hashimoto, Mayumi Mori   +7 more
openalex   +2 more sources