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Schlachetzki, Zinayida
15  results:
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1

Reactive gene curation to support interpretation and report..:

Clause, Amanda R. ; Taylor, Julie P. ; Rajkumar, Revathi...
Cell Genomics.  3 (2023)  2 - p. 100258 , 2023
Link: https://doi.org/10.1016/..
 
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2

eP329: Genome sequencing uncovers molecular cause in a case..:

Chandrasekhar, Anjana ; Schlachetzki, Zinayida ; Coffey, Alison...
Genetics in Medicine.  24 (2022)  3 - p. S206 , 2022
Link: https://doi.org/10.1016/..
 
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3

A case series of challenging molecular diagnoses identified..:

Schlachetzki, Zinayida ; Chandrasekhar, Anjana ; Clause, Amanda...
Molecular Genetics and Metabolism.  132 (2021)  - p. S182 , 2021
Link: https://doi.org/10.1016/..
 
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4

Biallelic hypomorphic mutations in HEATR5B, encoding HEAT r..:

Ghosh, Shereen G. ; Breuss, Martin W. ; Schlachetzki, Zinayida...
European Journal of Human Genetics.  29 (2021)  6 - p. 957-964 , 2021
Link: https://doi.org/10.1038/..
 
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5

Biallelic mutations in the 3′ exonuclease TOE1 cause pontoc..:

Lardelli, Rea M ; Schaffer, Ashleigh E ; Eggens, Veerle R C...
Nature Genetics.  49 (2017)  3 - p. 457-464 , 2017
Link: https://doi.org/10.1038/..
 
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6

Dopaminergic lesioning impairs adult hippocampal neurogenes..:

Schlachetzki, Johannes C.M. ; Grimm, Thomas ; Schlachetzki, Zinayida...
Journal of Neuroscience Research.  94 (2015)  1 - p. 62-73 , 2015
Link: https://doi.org/10.1002/..
 
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7

Genome sequencing identifies three molecular diagnoses incl..:

Muirhead, Kayla J ; Clause, Amanda R ; Schlachetzki, Zinayida...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8751417/.  , 2021
Link: http://www.ncbi.nlm.nih...
 
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8

Biallelic hypomorphic mutations in HEATR5B, encoding HEAT r..:

Hosny, Heba ; Zaki, Maha S ; Topaloglu, Haluk...
04a8e86c-947f-4ea5-a540-e08263943b41.  , 2021
Link: https://doi.org/10.1038/..
 
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9

Biallelic hypomorphic mutations in HEATR5B, encoding HEAT r..:

Ghosh, Shereen G ; Breuss, Martin W ; Schlachetzki, Zinayida...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8187379/.  , 2021
Link: http://www.ncbi.nlm.nih...
 
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10

Biallelic mutations in the 3' exonuclease TOE1 cause pontoc..:

Lardelli, Rea M ; Schaffer, Ashleigh E ; Eggens, Veerle R C...
boreal:185588.  , 2017
Link: http://hdl.handle.net/20..
 
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11

Biallelic Mutations in the 3' Exonuclease TOE1 Cause Pontoc..:

Lardelli, Rea M ; Schaffer, Ashleigh E ; Eggens, Veerle R.C...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5325768/.  , 2017
Link: http://www.ncbi.nlm.nih...
 
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12

Biallelic mutations in the 3' exonuclease TOE1 cause pontoc..:

Lardelli, Rea M ; Schaffer, Ashleigh E ; Eggens, Veerle R C...
boreal:185588.  , 2017
Link: http://hdl.handle.net/20..
 
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13

Biallelic mutations in the 3 ' exonuclease TOE1 cause ponto..:

Heckman, Laura Dean ; Rosti, Rasim Ozgur ; Dikoglu, Esra...
794afd61-8a73-4521-9a7c-0388d3347c22.  , 2017
Link: https://doi.org/10.1038/..
 
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14

Biallelic mutations in the 3′ exonuclease TOE1 cause pontoc..:

Lardelli, Rea M ; Schaffer, Ashleigh E ; Eggens, Veerle RC...
qt0xp8399t.  , 2017
Link: https://escholarship.org..
 
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15

Reactive gene curation to support interpretation and report..:

Amanda R. Clause ; Julie P. Taylor ; Revathi Rajkumar...
http://www.sciencedirect.com/science/article/pii/S2666979X23000149.  , 2023
Link: https://doi.org/10.1016/..
 
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