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Kleppe, Soledad
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1

Design of a Phase 3 study of AAV-mediated gene transfer of ..:

Konczal, Laura ; Baker, Joshua ; Wagenmakers, Margreet...
Molecular Genetics and Metabolism.  141 (2024)  4 - p. 108229 , 2024
Link: https://doi.org/10.1016/..
 
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2

Hearing Loss: Genetic Testing, Current Advances and the Sit..:

De Rosa, Maria Agustina ; Bernardi, Maria T. ; Kleppe, Soledad.
Genes.  15 (2024)  2 - p. 178 , 2024
Link: https://doi.org/10.3390/..
 
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3

Expansion of the clinical and molecular spectrum of WWOX‐re..:

Chong, Shuk Ching ; Cao, Ye ; Fung, Eva L. W....
American Journal of Medical Genetics Part A.  191 (2022)  3 - p. 776-785 , 2022
Link: https://doi.org/10.1002/..
 
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4

Exome Sequencing Identifies a Novel Homozygous Mutation in ..:

Rajagopal, Abbhirami ; Braslavsky, Débora ; Lu, James T....
The Journal of Clinical Endocrinology & Metabolism.  99 (2014)  11 - p. E2451-E2456 , 2014
Link: https://doi.org/10.1210/..
 
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5

Biochemical, molecular, and clinical diagnoses of patients ..:

Comeaux, Matthew S. ; Wang, Jing ; Wang, Guoli...
Molecular Genetics and Metabolism.  109 (2013)  3 - p. 260-268 , 2013
Link: https://doi.org/10.1016/..
 
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6

A randomized controlled trial to evaluate the effects of hi..:

Nagamani, Sandesh C.S. ; Shchelochkov, Oleg A. ; Mullins, Mary A....
Molecular Genetics and Metabolism.  107 (2012)  3 - p. 315-321 , 2012
Link: https://doi.org/10.1016/..
 
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7

Citrin deficiency, a perplexing global disorder:

Dimmock, David ; Maranda, Bruno ; Dionisi-Vici, Carlo...
Molecular Genetics and Metabolism.  96 (2009)  1 - p. 44-49 , 2009
Link: https://doi.org/10.1016/..
 
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8

Ethical and Legal Implications of Genetic Testing in Androg..:

Berg, Jonathan S. ; French, Shannon L. ; McCullough, Laurence B....
The Journal of Pediatrics.  150 (2007)  4 - p. 434-438 , 2007
Link: https://doi.org/10.1016/..
 
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9

Ten novel mutations in the molybdenum cofactor genes MOCS1 ..:

Leimkühler, Silke ; Charcosset, Mathilde ; Latour, Philippe...
Human Genetics.  117 (2005)  6 - p. 565-570 , 2005
Link: https://doi.org/10.1007/..
 
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10

Clinical Consequences of Urea Cycle Enzyme Deficiencies and..:

Scaglia, Fernando ; Brunetti-Pierri, Nicola ; Kleppe, Soledad...
The Journal of Nutrition.  134 (2004)  10 - p. 2775S-2782S , 2004
Link: https://doi.org/10.1093/..
 
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11

Long-Term Correction of Ornithine Transcarbamylase Deficien..:

Mian, Asad ; McCormack Jr., W.Michael ; Mane, Viraj...
Molecular Therapy.  10 (2004)  3 - p. 492-499 , 2004
Link: https://doi.org/10.1016/..
 
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12

Urea cycle disorders:

Kleppe, Soledad ; Mian, Asad ; Lee, Brendan
Current Treatment Options in Neurology.  5 (2003)  4 - p. 309-319 , 2003
Link: https://doi.org/10.1007/..
 
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13

Exome Sequencing Identifies a Novel Homozygous Mutation in ..:

Rajagopal, Abbhirami ; Braslavsky, Débora ; Lu, James T...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4223446/.  , 2014
Link: http://www.ncbi.nlm.nih...
 
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