ISSN Portal
The Keepers Registry (preservation)
SHERPA/RoMEO (access policies)
Genetics in Medicine
container_h2z5pwtf7veqbi7mqc2bhke44a
Springer Science and Business Media LLC
Homepage URLs
http://www.nature.com/gim/archive/index.html |
http://www.nature.com/gim/index.html |
http://www.geneticsinmedicine.org/ |
Example Publications
Clustered variants in the 5' coding region of TRA2B cause a distinctive neurodevelopmental syndrome
Francis Ramond, Caroline Dalgliesh, Mona Grimmel, Oded Wechsberg, Annalisa Vetro, Renzo Guerrini, David FitzPatrick, Rebecca L. Poole, Marine Lebrun, Allan Bayat, Ute Grasshoff, Miriam Bertrand
(+19 others)
2022
|
Genetics in Medicine
doi:10.1016/j.gim.2022.100003 pmid:36549593
Informational needs of individuals from BRCA-harboring families: a systematic review and content analysis
Sun-young Park, Yoonjoo Kim, Sue Kim, Maria Katapodi
2022
|
Genetics in Medicine
doi:10.1016/j.gim.2022.100001 pmid:36549594
Incidental molecular diagnoses and heterozygous risk alleles in a carrier screening cohort
Jennifer Reiner, Lynne S. Rosenblum, Winnie Xin, Zhaoqing Zhou, Hui Zhu, Natalia Leach
2022
|
Genetics in Medicine
doi:10.1016/j.gim.2022.10.001 pmid:36459106
Evaluating brain white matter hyperintensity, IQ scores, and plasma neurofilament light chain concentration in early-treated patients with infantile-onset Pompe disease
Yu-Kang Hsu, Yin-Hsiu Chien, Steven Shinn-Forng Peng, Wuh-Liang Hwu, Wang-Tso Lee, Ni-Chung Lee, Eric Po-Yu Huang, wen-chin weng
2022
|
Genetics in Medicine
doi:10.1016/j.gim.2022.10.005 pmid:36399131
Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities
Elisa Cali, Mohnish Suri, Marcello Scala, Matteo P. Ferla, Shahryar Alavi, Eissa Ali Faqeih, Emilia K. Bijlsma, Kristen M. Wigby, Diana Baralle, Mohammad Y.V. Mehrjardi, Jennifer Schwab, Konrad Platzer
(+55 others)
2022
|
Genetics in Medicine
doi:10.1016/j.gim.2022.09.016 pmid:36399134
5,348
Known Releases
Preservation Summary [more]
2,951 | preserved and accessble (bright) | |
2,381 | preserved, inaccessible (dark) | |
16 | no known preservation |
Lookup Links