Functional Consequences of PRODH Missense Mutations

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

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

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

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

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

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

מאת 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
יצא לאור 2004

High Prevalence of Hearing Impairment in Primary Congenital Hypothyroidism

מאת 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
הוצא לאור ב Eur Thyroid J (2021)

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

מאת 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
הוצא לאור ב Front Immunol (2019)

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

מאת 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
הוצא לאור ב Front Immunol (2017)

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

מאת 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.
הוצא לאור ב Int J Neonatal Screen (2021)