Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Reem Saadeh-Haddad"'
Autor:
Edward Blair, Elizabeth J. Bhoj, Frank J. Kaiser, Tim M. Strom, Ilaria Parenti, Nina B. Gold, Feliciano J. Ramos, Lance H. Rodan, Juan Pié, Dong Li, Reem Saadeh-Haddad, Beatriz Puisac, Constance Smith-Hicks, Hong Cui, Kirsty McWalter, Anna Chassevent, Maria J. Guillen Sacoto
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a02c84533841c304892512b9c207b7e9
https://doi.org/10.1111/cge.13851/v2/response1
https://doi.org/10.1111/cge.13851/v2/response1
Autor:
Tim M. Strom, Nina B. Gold, Anna Chassevent, Edward Blair, Lance H. Rodan, Juan Pié, Constance Smith-Hicks, Ilaria Parenti, Feliciano J. Ramos, Maria J. Guillen Sacoto, Kirsty McWalter, Reem Saadeh-Haddad, Elizabeth J. Bhoj, Dong Li, Beatriz Puisac, Frank J. Kaiser, Hong Cui
Publikováno v:
Clinical geneticsREFERENCES. 98(6)
The gamma-1 isoform of casein kinase 1, the protein encoded by CSNK1G1, is involved in the growth and morphogenesis of cells. This protein is expressed ubiquitously among many tissue types, including the brain, where it regulates the phosphorylation
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b18c41570eabf0f17a8d6fe9816f95a5
https://pubmed.ncbi.nlm.nih.gov/33009664
https://pubmed.ncbi.nlm.nih.gov/33009664
Autor:
Arthur S. Aylsworth, Kathryn M. Shively, Kati J. Buckingham, Mariam Al-Mulla, Paul M.L. Janssen, Periyasamy Radhakrishnan, Julien Fauré, Klaus Dieterich, Deborah A. Nickerson, Tawfeg Ben-Omran, Francesca Inzana, Emily M Teets, Yline Capri, Xenia Latypova, David M. Warshaw, Tamar Harel, Brit L. Martin, Ulrich A. Schatz, Katta M. Girisha, Sharon L. Amacher, Michael J. Bamshad, Reem Saadeh-Haddad, John Rendu, Hagar Mor-Shaked, Colby T. Marvin, Anju Shukla, Shalini S. Nayak, Samantha Beck Previs, Jessica X. Chong, Fatima Almusafri, Jared C. Talbot
Publikováno v:
Am J Hum Genet
We identified ten persons in six consanguineous families with Distal Arthrogryposis (DA) who had congenital contractures, scoliosis, and short stature. Exome sequencing revealed that each affected person was homozygous for one of two different rare v
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f0b23bc28fe1f7737e218e54ee40affc
https://europepmc.org/articles/PMC7413889/
https://europepmc.org/articles/PMC7413889/
Autor:
Reem Saadeh-Haddad, Jennifer Razak, Karen Kamholz, Rita Driggers, Julia Timofeev, Marko Culjat
Publikováno v:
Clinical Case Reports
Key Clinical Message We describe the prenatal and postnatal course of an infant with a large 19p deletion. Cases such as ours will improve the knowledge of specific gene functions for every medical specialist. The goal is to allow for a more rapid di
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::672893e865cf78bcf1256dc42cce0f56
http://europepmc.org/articles/PMC6099042
http://europepmc.org/articles/PMC6099042
Autor:
Tawfeg Ben-Omran, Xenia Latypova, Jared C. Talbot, Reem Saadeh-Haddad, Julien Fauré, Mariam Al-Mulla, Jessica X. Chong, Arthur S. Aylsworth, Kati J. Buckingham, John Rendu, Fatima Almusafri, Yline Capri, Brit L. Martin, Deborah A. Nickerson, Emily M Teets, Francesca Inzana, Paul M.L. Janssen, Shalini S. Nayak, Sharon L. Amacher, Klaus Dieterich, David M. Warshaw, Katta M. Girisha, Colby T. Marvin, Periyasamy Radhakrishnan, Kathryn M. Shively, Ulrich A. Schatz, Tamar Harel, Hagar Mor-Shaked, Michael J. Bamshad, Anju Shukla, Samantha Beck Previs
Publikováno v:
The American Journal of Human Genetics. 107:1188-1189
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ffc18cde37683aaf474199a44241613d
https://doi.org/10.1016/j.ajhg.2020.11.006
https://doi.org/10.1016/j.ajhg.2020.11.006