Functional Consequences of PRODH Missense Mutations

Por Bender, Hans-Ulrich , Almashanu, Shlomo , Steel, Gary , Hu, Chien-An , Lin, Wei-Wen , Willis, Alecia , Pulver, Ann , Valle, David 
Publicado em 2005

The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency

Por Baumgartner, Matthias R., Almashanu, Shlomo, Suormala, Terttu, Obie, Cassandra, Cole, Robert N., Packman, Seymour, Baumgartner, E. Regula, Valle, David
Publicado em 2001

Long-Term Outcome of Loss-of-Function Mutations in Thyrotropin Receptor Gene

Por Tenenbaum-Rakover, Yardena, Almashanu, Shlomo, Hess, Ora, Admoni, Osnat, Hag-Dahood Mahameed, Ahmad, Schwartz, Naama, Allon-Shalev, Stavit, Bercovich, Dani, Refetoff, Samuell
Publicado no Thyroid (2015)

Isolated 3-Methylcrotonyl-CoA Carboxylase Deficiency: Evidence for an Allele-Specific Dominant Negative Effect and Responsiveness to Biotin Therapy

Por Baumgartner, Matthias R., Dantas, M. Fernanda, Suormala, Terttu, Almashanu, Shlomo, Giunta, Cecilia, Friebel, Dolores, Gebhardt, Boris, Fowler, Brian, Hoffmann, Georg F., Baumgartner, E. Regula, Valle, David
Publicado em 2004

Reduced Function and Diversity of T Cell Repertoire and Distinct Clinical Course in Patients With IL7RA Mutation

Por Lev, Atar, Simon, Amos J., Barel, Ortal, Eyal, Eran, Glick-Saar, Efrat, Nayshool, Omri, Birk, Ohad, Stauber, Tali, Hochberg, Amit, Broides, Arnon, Almashanu, Shlomo, Hendel, Ayal, Lee, Yu Nee, Somech, Raz
Publicado no Front Immunol (2019)

First Year of Israeli Newborn Screening for Severe Combined Immunodeficiency—Clinical Achievements and Insights

Por Rechavi, Erez, Lev, Atar, Simon, Amos J., Stauber, Tali, Daas, Suha, Saraf-Levy, Talia, Broides, Arnon, Nahum, Amit, Marcus, Nufar, Hanna, Suhair, Stepensky, Polina, Toker, Ori, Dalal, Ilan, Etzioni, Amos, Almashanu, Shlomo, Somech, Raz
Publicado no Front Immunol (2017)

Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010

Por Loeber, J. Gerard, Platis, Dimitris, Zetterström, Rolf H., Almashanu, Shlomo, Boemer, François, Bonham, James R., Borde, Patricia, Brincat, Ian, Cheillan, David, Dekkers, Eugenie, Dimitrov, Dobry, Fingerhut, Ralph, Franzson, Leifur, Groselj, Urh, Hougaard, David, Knapkova, Maria, Kocova, Mirjana, Kotori, Vjosa, Kozich, Viktor, Kremezna, Anastasiia, Kurkijärvi, Riikka, La Marca, Giancarlo, Mikelsaar, Ruth, Milenkovic, Tatjana, Mitkin, Vyacheslav, Moldovanu, Florentina, Ceglarek, Uta, O’Grady, Loretta, Oltarzewski, Mariusz, Pettersen, Rolf D., Ramadza, Danijela, Salimbayeva, Damilya, Samardzic, Mira, Shamsiddinova, Markhabo, Songailiené, Jurgita, Szatmari, Ildiko, Tabatadze, Nazi, Tezel, Basak, Toromanovic, Alma, Tovmasyan, Irina, Usurelu, Natalia, Vevere, Parsla, Vilarinho, Laura, Vogazianos, Marios, Yahyaoui, Raquel, Zeyda, Maximilian, Schielen, Peter C.J.I.
Publicado no Int J Neonatal Screen (2021)