Functional Consequences of PRODH Missense Mutations

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

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

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

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

le Tenenbaum-Rakover, Yardena, Almashanu, Shlomo, Hess, Ora, Admoni, Osnat, Hag-Dahood Mahameed, Ahmad, Schwartz, Naama, Allon-Shalev, Stavit, Bercovich, Dani, Refetoff, Samuell
Foilsithe in Thyroid (2015)

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

le 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
Foilsithe 2004

High Prevalence of Hearing Impairment in Primary Congenital Hypothyroidism

le Almagor, Tal, Rath, Shoshana, Nachtigal, Dan, Sharroni, Zohara, Elias-Assad, Ghadir, Hess, Ora, Havazelet, Gilad, Zehavi, Yoav, Spiegel, Ronen, Bercovich, Dani, Almashanu, Shlomo, Tenenbaum-Rakover, Yardena
Foilsithe in Eur Thyroid J (2021)

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

le 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
Foilsithe in Front Immunol (2019)

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

le 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
Foilsithe in Front Immunol (2017)

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

le 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.
Foilsithe in Int J Neonatal Screen (2021)