Functional Consequences of PRODH Missense Mutations

Yazar: Bender, Hans-Ulrich , Almashanu, Shlomo , Steel, Gary , Hu, Chien-An , Lin, Wei-Wen , Willis, Alecia , Pulver, Ann , Valle, David 
Baskı/Yayın Bilgisi 2005

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

Yazar: Baumgartner, Matthias R., Almashanu, Shlomo, Suormala, Terttu, Obie, Cassandra, Cole, Robert N., Packman, Seymour, Baumgartner, E. Regula, Valle, David
Baskı/Yayın Bilgisi 2001

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

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

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

Yazar: 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
Baskı/Yayın Bilgisi 2004

High Prevalence of Hearing Impairment in Primary Congenital Hypothyroidism

Yazar: 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
Yayımlandı Eur Thyroid J (2021)

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

Yazar: 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
Yayımlandı Front Immunol (2019)

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

Yazar: 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
Yayımlandı Front Immunol (2017)

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

Yazar: 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.
Yayımlandı Int J Neonatal Screen (2021)