Results 201 to 210 of about 17,967 (297)

Fibroblast Transcriptomics in Molecular Diagnostics of a Comprehensive Dystonia Cohort

Annals of Neurology, EarlyView.
Objective Genomic sequencing leaves >50% of dystonia‐affected individuals without a diagnosis. Where DNA‐oriented approaches remain insufficient, integrating multiomics is essential to advance genome interpretation. Herein, we incorporated RNA sequencing (RNA‐seq) data from 167 patients with dystonia across a range of ages and presentations. Methods We
Alice Saparov, Ivana Dzinovic, Theresa Brunet, Vicente A. Yépez, Florian Hölzlwimmer, Elisabetta Indelicato, Birgit Assmann, Susann Badmann, Diana Ballhausen, Steffen Berweck, Felix Brechtmann, Melanie Brugger, Kevork Derderian, Felix Distelmaier, Philip Harrer, Denisa Harvanova, Petra Havrankova, Ann‐Kathrin Jaroszynski, Miriam Kolnikova, Robert Kopajtich, Anne Koy, Magdalena Krygier, Lukas Kunc, Katarina Kusikova, Oliver Maier, Maria Mazurkiewicz‐Bełdzińska, Christian Mertes, Ava Oberlack, Timo Roser, Alexandra Sitzberger, Ugo Sorrentino, Antonia M. Stehr, Katharina Vill, Matias Wagner, Holger Prokisch, Sylvia Boesch, Jan Necpal, Robert Jech, Juliane Winkelmann, Elisabeth Graf, Julien Gagneur, Matej Skorvanek, Michael Zech   +42 more
wiley   +1 more source

'It's all settled on the right page' surrogates' feelings and reflections of surrogacy two decades on. [PDF]

Hum Reprod
Shaw K, Imrie S, Hall P, Jadva V.
europepmc   +1 more source

The Dynamics of Neurofilament Light Chain in Spinal Muscular Atrophy

Annals of Neurology, EarlyView.
Objective Newborn screening (NBS) for spinal muscular atrophy (SMA) facilitates early diagnosis and treatment for affected individuals. However, fluid biomarkers that provide early insights into disease activity and outcomes in a neonatal cohort and those unable to access (due to reimbursement criteria) or deferring immediate treatment are lacking ...
Arlene D'Silva, Karen Herbert, Lakshmi Balaji, Jia Mei He, Tejaswi Kandula, Hugo A. Sampaio, Hooi‐Ling Teoh, Esther Tantsis, Jihee Sohn, Nancy Briggs, Nickson Ning, Matthew C. Kiernan, Didu S. Kariyawasam, Michelle A. Farrar   +13 more
wiley   +1 more source

Ethical, medico-legal and financial aspects of the legalization of surrogate maternity in Bulgaria. [PDF]

Afr Health Sci
Mihaylova A, Bakova D, Davcheva D, Yaneva A, Shopova D, Harizanova S, Parahuleva N, Semerdzhieva M.   +7 more
europepmc   +1 more source

How do women with Rokitansky syndrome and healthcare professionals reflect on the provision of uterine transplantation? Insights from an interview study in France, Norway, and Sweden. [PDF]

Acta Obstet Gynecol Scand
Carton I, Dion L, Lavoué V, Hofmann BM.
europepmc   +1 more source

Maternal Deprivation [PDF]

, 2006
Diamond, Eugene F.
core   +2 more sources

I am just a sister: a field study on sister as mother role from Guangdong, China. [PDF]

Front Psychol
Feng Z, Ye Y, Wang H, Wang J.
europepmc   +1 more source

Surrogate motherhood families

Journal of Reproductive and Infant Psychology, 2018
openaire   +2 more sources

Subverting the Telenovela: Redefining Gender in Cisneros’s “Woman Hollering Creek” and Islas’s The Rain God [PDF]

, 2013
Malli, Marina
core   +1 more source

Are companies ethically justified in offering nonmedical egg freezing as an employee benefit? [PDF]

Bioethics
Espinosa-Herrera A, Pietrini-Sanchez MJ.
europepmc   +1 more source