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Silver, Esther
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1

KCTD7 deficiency defines a distinct neurodegenerative disor..:

Metz, Kyle A ; Teng, Xinchen ; Coppens, Isabelle...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6295419/.  , 2018
Link: http://www.ncbi.nlm.nih...
 
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2

De novo mutations in KIF1A cause progressive encephalopathy..:

Esmaeeli Nieh, Sahar ; Madou, Maura R Z ; Sirajuddin, Minhajuddin...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4479523/.  , 2015
Link: http://www.ncbi.nlm.nih...
 
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3

De novo mutations in KIF1A cause progressive encephalopathy..:

Nieh, Sahar Esmaeeli ; Madou, Maura RZ ; Sirajuddin, Minhajuddin...
qt7dq598zx.  , 2015
Link: https://escholarship.org..
 
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4

Deficiency of Asparagine Synthetase Causes Congenital Micro..:

Ruzzo, Elizabeth ; Capo-Chichi, José-Mario ; Ben-Zeev, Bruria...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.neuron.2013.08.013.  , 2013
Link: https://hal.science/hal-..
 
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5

Deficiency of Asparagine Synthetase Causes Congenital Micro..:

Ruzzo, Elizabeth ; Capo-Chichi, José-Mario ; Ben-Zeev, Bruria...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.neuron.2013.08.013.  , 2013
Link: https://hal.archives-ouv..
 
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6

Deficiency of Asparagine Synthetase Causes Congenital Micro..:

Ruzzo, Elizabeth ; Capo-Chichi, José-Mario ; Ben-Zeev, Bruria...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.neuron.2013.08.013.  , 2013
Link: https://hal.science/hal-..
 
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7

Deficiency of Asparagine Synthetase Causes Congenital Micro..:

Ruzzo, Elizabeth ; Capo-Chichi, José-Mario ; Ben-Zeev, Bruria...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.neuron.2013.08.013.  , 2013
Link: https://hal.science/hal-..
 
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8

Heterozygous Mutations in the ADCK3 Gene in Siblings with C..:

Blumkin, Lubov ; Leshinsky-Silver, Esther ; Zerem, Ayelet...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3897800.  , 2013
Link: http://www.ncbi.nlm.nih...
 
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9

Deficiency of Asparagine Synthetase Causes Congenital Micro..:

Ruzzo, Elizabeth ; Capo-Chichi, José-Mario ; Ben-Zeev, Bruria...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.neuron.2013.08.013.  , 2013
Link: https://hal.science/hal-..
 
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10

Variants in ZNF365 isoform D are associated with Crohn's Di..:

Haritunians, Talin ; Jones, Michelle R ; McGovern, Dermot P.B...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3250380.  , 2011
Link: http://www.ncbi.nlm.nih...
 
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11

A large homozygous deletion in the SAMHD1 gene causes atypi..:

Leshinsky-Silver, Esther ; Malinger, Gustavo ; Ben-Sira, Liat...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3062001.  , 2011
Link: http://www.ncbi.nlm.nih...
 
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12

Mutations Disrupting Selenocysteine Formation Cause Progres..:

Agamy, Orly ; Ben Zeev, Bruria ; Lev, Dorit...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2948803.  , 2010
Link: http://www.ncbi.nlm.nih...
 
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13

Analysis of DNA methylation at birth and in childhood revea..:

Kadalayil, Latha ; Alam, Md. Zahangir ; White, Cory Haley...
10.1186/s13148-023-01542-5.  , 2024
Link: http://hdl.handle.net/10..
 
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14

Analysis of DNA methylation at birth and in childhood revea..:

Rzehak, Peter ; Grote, Veit ; Langhendries, Jean-Paul...
qt1m02p94z.  , 2023
Link: https://escholarship.org..
 
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15

Analysis of DNA methylation at birth and in childhood revea..:

Kadalayil, Latha ; Alam, Md Zahangir ; White, Cory Haley...
https://pure.au.dk/portal/en/publications/b15dd518-52e7-4182-b90d-c41c6f897316.  , 2023
Link: https://pure.au.dk/porta..
 
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