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Author/Creator Frydman, Moshe

2. Cytoplasmic Mislocalization of POU3F4 Due to Novel Mutations Leads to Deafness in Humans and Mice. Issue 8 (8th May 2013)

Authors:
Parzefall, Thomas; Shivatzki, Shaked; Lenz, Danielle R.; Rathkolb, Birgit; Ushakov, Kathy; Karfunkel, Daphne; Shapira, Yisgav; Wolf, Michael; Mohr, Manuela; Wolf, Eckhard; Sabrautzki, Sibylle; de Angelis, Martin Hrabé; Frydman, Moshe; Brownstein, Zippora; Avraham, Karen B.
Journal:
Human mutation
Issue:
Volume 34:Issue 8(2013:Aug.)
Page Start:
1102
Record Type:
Journal Article
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3. High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correlation. Issue 11 (21st August 2015)

Authors:
Rojnueangnit, Kitiwan; Xie, Jing; Gomes, Alicia; Sharp, Angela; Callens, Tom; Chen, Yunjia; Liu, Ying; Cochran, Meagan; Abbott, Mary‐Alice; Atkin, Joan; Babovic‐Vuksanovic, Dusica; Barnett, Christopher P.; Crenshaw, Melissa; Bartholomew, Dennis W.; Basel, Lina; Bellus, Gary; Ben‐Shachar, Shay; Bi...
Journal:
Human mutation
Issue:
Volume 36:Issue 11(2015:Nov.)
Page Start:
1052
Record Type:
Journal Article
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4. Mutation Update and Genotype–Phenotype Correlations of Novel and Previously Described Mutations in TPM2 and TPM3 Causing Congenital Myopathies. Issue 7 (1st May 2014)

Authors:
Marttila, Minttu; Lehtokari, Vilma‐Lotta; Marston, Steven; Nyman, Tuula A.; Barnerias, Christine; Beggs, Alan H.; Bertini, Enrico; Ceyhan‐Birsoy, Özge; Cintas, Pascal; Gerard, Marion; Gilbert‐Dussardier, Brigitte; Hogue, Jacob S.; Longman, Cheryl; Eymard, Bruno; Frydman, Moshe; Kang, Peter B.; Kl...
Journal:
Human mutation
Issue:
Volume 35:Issue 7(2014:Jul.)
Page Start:
779
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

5. Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene ATOH1. Issue 4 (24th August 2020)

Authors:
Brownstein, Zippora; Gulsuner, Suleyman; Walsh, Tom; Martins, Fábio T.A.; Taiber, Shahar; Isakov, Ofer; Lee, Ming K.; Bordeynik‐Cohen, Mor; Birkan, Maria; Chang, Weise; Casadei, Silvia; Danial‐Farran, Nada; Abu‐Rayyan, Amal; Carlson, Ryan; Kamal, Lara; Arnthórsson, Asgeir Ö.; Sokolov, Meirav; Gil...
Journal:
Clinical genetics
Issue:
Volume 98:Issue 4(2020)
Page Start:
353
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗