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Familial Occurrence of Isolated Late-onset Nasolacrimal Duct Obstruction in Two Unrelated Families
by
Dinur, Anat Bahat
,
Buchbut, Ortal
,
Gradstein, Libe
,
Elsana, Baker
,
Freund, Ofek
,
Birk, Ohad S
,
Tsumi, Erez
Published in
Rambam Maimonides medical journal
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IHH enhancer variant within neighboring NHEJ1 intron causes microphthalmia anophthalmia and coloboma
by
Wormser, Ohad
,
Perez, Yonatan
,
Dolgin, Vadim
,
Kamali, Bahman
,
Tangeman, Jared A
,
Gradstein, Libe
,
Yogev, Yuval
,
Hadar, Noam
,
Freund, Ofek
,
Drabkin, Max
,
Halperin, Daniel
,
Irron, Inbar
,
Grajales-Esquivel, Erika
,
Del Rio-Tsonis, Katia
,
Birnbaum, Ramon Y
,
Akler, Gidon
,
Birk, Ohad S
Published in
Npj genomic medicine
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VARista: a free web platform for streamlined whole-genome variant analysis across T2T, hg38, and hg19
by
Hadar, Noam
,
Dolgin, Vadim
,
Oustinov, Katya
,
Yogev, Yuval
,
Poleg, Tomer
,
Safran, Amit
,
Freund, Ofek
,
Agam, Nadav
,
Jean, Matan M.
,
Proskorovski-Ohayon, Regina
,
Wormser, Ohad
,
Drabkin, Max
,
Halperin, Daniel
,
Eskin-Schwartz, Marina
,
Narkis, Ginat
,
Sued-Hendrickson, Sufa
,
Aminov, Ilana
,
Gombosh, Maya
,
Aharoni, Sarit
,
Birk, Ohad S.
Published in
Human genetics
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Partial penetrance and phenotypic variability of aplasia of lacrimal and salivary glands caused by a novel FGF10 donor splice‐site mutation
by
Freund, Ofek
,
Elsana, Baker
,
Agam, Nadav
,
Jean, Matan M.
,
Safran, Amit
,
Poleg, Tomer
,
Roguin, Nir
,
Gradstein, Libe
,
Tsumi, Erez
,
Birk, Ohad S.
Published in
American journal of medical genetics. Part A
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Compound Heterozygosity for Late-Onset Cardiomyopathy-Causative ALPK3 Coding Variant and Novel Intronic Variant Cause Infantile Hypertrophic Cardiomyopathy
by
Poleg, Tomer
,
Eskin-Schwartz, Marina
,
Proskorovski-Ohayon, Regina
,
Aminov, Ilana
,
Dolgin, Vadim
,
Agam, Nadav
,
Jean, Matan
,
Safran, Amit
,
Freund, Ofek
,
Levitas, Aviva
,
Konstantino, Yuval
,
Birk, Ohad S.
,
Westreich, Roi
,
Haim, Moti
Published in
Journal of cardiovascular translational research
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Familial Occurrence of Isolated Late-onset Nasolacrimal Duct Obstruction in Two Unrelated Families
by
Dinur, Anat Bahat
,
Buchbut, Ortal
,
Gradstein, Libe
,
Elsana, Baker
,
Freund, Ofek
,
Birk, Ohad S
,
Tsumi, Erez
Published in
Rambam Maimonides medical journal
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American Journal Of Medical Genetics. Part A
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Rambam Maimonides Medical Journal
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