المؤلفون: Joie O. Olayiwola, Mohammad Marhabaie, Daniel Koboldt, Theodora Matthews, Amy Siemon, Danielle Mouhlas, Taylor Porter, George Kyle, Cortlandt Myers, Hui Mei, Ying‐Chen Claire Hou, Melanie Babcock, Jesse Hunter, Kathleen M. Schieffer, Yassmine Akkari, Shalini Reshmi, Catherine Cottrell, Mariam T. Mathew, Marco L. Leung

المصدر: Molecular Genetics & Genomic Medicine, Vol 12, Iss 3, Pp n/a-n/a (2024)

مصطلحات موضوعية: amniocentesis, aneuploidy, chromosomal microarray, genomics, prenatal testing, products of conception, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2324-9269

URL الوصول: https://doaj.org/article/cbb336865d6a46b69f88f107894147da

المؤلفون: Swetha Ramadesikan, Caitlyn Colwell, Mohammad Marhabaie, Leeran Dublin-Ryan, Iftekhar Showpnil, Umamaheswaran Gurusamy, Jesse Hunter, Allison Daley, Elizabeth Varga, Marco Leung, Rolf Stottmann, Bimal Chaudhari, Scott Hickey, Peter White, Daniel Koboldt, Richard Wilson

المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101080- (2024)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774424002267; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/fad6429f01c340d3a5b62d38ac73cd53

المؤلفون: Jacqueline Yurkoski, Daniel Koboldt, Ethan Mezoff, William Burns, Bimal Chaudhari

المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101174- (2024)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774424003200; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/841718fda950448ba786a85ece32d22d

المؤلفون: Cherith Somerville, Ersa Erkut, Marci Schwartz, Xin Chen, Roozbeh Manshaei, Qiliang Ding, Karin Diderich, Lisa Herzig, Bri Dingmann, Chloe Quelin, Véronique Pingault, Christèle Dubourg, Joana Rosmaninho Salgado, Sérgio Sousa, Daniel Koboldt, Rachel Gosselin, Kim McBride, Maria Arvio, Irma Järvelä, Isabelle Schrauwen, Laura Conlin, Cara Skraban, Sara Reichert, Jacqueline Leonard, Emma Bedoukian, Raymond Kim, Ian Scott, Rebekah Jobling

المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101469- (2024)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774424006150; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/0bcd695479904c01b8c45291edea92ee

المؤلفون: Kathleen Schieffer, Mariam Mathew, Kristy Lee, Samantha Choi, Elizabeth Varga, Emma Garval, Olivia Grischow, Aimee Jalkanen, Vijayakumar Jayaraman, Don Corsmeier, Ben Kelly, Peter Chang, James Fitch, Katherine Miller, Daniel Koboldt, Peter White, Vincent Magrini, Richard Wilson, Elaine Mardis, Catherine Cottrell

المصدر: Cancer Genetics. :37-38

مصطلحات موضوعية: Cancer Research, Genetics, Molecular Biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::c7df5d4aa647a1db68fef62ff375f1dd
https://doi.org/10.1016/j.cancergen.2022.10.120

المؤلفون: Meer Jacob Rahimi, Nicole Urban, Meret Wegler, Heinrich Sticht, Michael Schaefer, Bernt Popp, Frank Gaunitz, Manuela Morleo, Vincenzo Nigro, Silvia Maitz, Grazia M.S. Mancini, Claudia Ruivenkamp, Eun-Kyung Suk, Tobias Bartolomaeus, Andreas Merkenschlager, Daniel Koboldt, Dennis Bartholomew, Alexander P.A. Stegmann, Margje Sinnema, Irma Duynisveld, Ramona Salvarinova, Simone Race, Bert B.A. de Vries, Aurélien Trimouille, Sophie Naudion, Daphna Marom, Uri Hamiel, Noa Henig, Florence Demurger, Nils Rahner, Enrika Bartels, J. Austin Hamm, Abbey M. Putnam, Richard Person, Rami Abou Jamra, Henry Oppermann

المساهمون: Rahimi, Meer Jacob, Urban, Nicole, Wegler, Meret, Sticht, Heinrich, Schaefer, Michael, Popp, Bernt, Gaunitz, Frank, Morleo, Manuela, Nigro, Vincenzo, Maitz, Silvia, Mancini, Grazia M S, Ruivenkamp, Claudia, Suk, Eun-Kyung, Bartolomaeus, Tobia, Merkenschlager, Andrea, Koboldt, Daniel, Bartholomew, Denni, Stegmann, Alexander P A, Sinnema, Margje, Duynisveld, Irma, Salvarinova, Ramona, Race, Simone, de Vries, Bert B A, Trimouille, Aurélien, Naudion, Sophie, Marom, Daphna, Hamiel, Uri, Henig, Noa, Demurger, Florence, Rahner, Nil, Bartels, Enrika, Hamm, J Austin, Putnam, Abbey M, Person, Richard, Abou Jamra, Rami, Oppermann, Henry, Clinical Genetics, MUMC+: DA KG Lab Specialisten (9), MUMC+: DA KG Lab Centraal Lab (9), MUMC+: DA KG Polikliniek (9), RS: FHML non-thematic output

المصدر: Am J Hum Genet
American Journal of Human Genetics, 109(5), 944-952. Cell Press

مصطلحات موضوعية: EXPRESSION, HOMEOSTASIS, de novo, seizure, HOUSEKEEPING FUNCTION, calcium homeostasi, Mutation, Missense, PLASMA-MEMBRANE CA2+-ATPASE, ISOFORMS, ATP2B1, Nervous System Malformations, development delay, abnormal behavior, Plasma Membrane Calcium-Transporting ATPases, CA2+, Report, BINDING, Genetics, Humans, MUTATION, Genetics (clinical), neurodevelopmental disorder, HEK293 Cells, Phenotype, Neurodevelopmental Disorders, intellectual disability

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d947f693563049c89bd43d0274e9d3c
http://hdl.handle.net/11591/468935