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Puffenberger, Erik G.
125  results:
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1

NPRL3 loss alters neuronal morphology, mTOR localization, c..:

Iffland II, Philip H ; Everett, Mariah E ; Cobb-Pitstick, Katherine M...
Brain.  145 (2022)  11 - p. 3872-3885 , 2022
Link: https://doi.org/10.1093/..
 
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2

Clinical characterization of familial hypercholesterolemia ..:

Williams, Katie B. ; Horst, Michael ; Young, Millie...
BMC Cardiovascular Disorders.  22 (2022)  1 - p. , 2022
Link: https://doi.org/10.1186/..
 
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3

Impact of parental relatedness on reproductive outcomes amo..:

Lynch, Megan T. ; Maloney, Kristin A. ; Pollin, Toni I....
American Journal of Medical Genetics Part A.  188 (2022)  7 - p. 2119-2128 , 2022
Link: https://doi.org/10.1002/..
 
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4

Mendelian disease research in the Plain populations of Lanc..:

Puffenberger, Erik G.
American Journal of Medical Genetics Part A.  185 (2021)  11 - p. 3322-3333 , 2021
Link: https://doi.org/10.1002/..
 
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5

A biallelic SNIP1 Amish founder variant causes a recognizab..:

Ammous, Zineb ; Rawlins, Lettie E. ; Jones, Hannah...
PLOS Genetics.  17 (2021)  9 - p. e1009803 , 2021
Link: https://doi.org/10.1371/..
 
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6

List of contributors:

, In: Genomics of Rare Diseases,
Breman, Amy ; Brigatti, Karlla Welch ; Chahrour, Maria... - p. xiii-xiv , 2021
Link: https://doi.org/10.1016/..
 
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7

Recessive diseases and founder genetics:

, In: Genomics of Rare Diseases,
Puffenberger, Erik G. - p. 97-115 , 2021
Link: https://doi.org/10.1016/..
 
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8

Branched-chain α-ketoacid dehydrogenase deficiency (maple s..:

Strauss, Kevin A. ; Carson, Vincent J. ; Soltys, Kyle...
Molecular Genetics and Metabolism.  129 (2020)  3 - p. 193-206 , 2020
Link: https://doi.org/10.1016/..
 
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9

Glutaric acidemia type 1: Treatment and outcome of 168 pati..:

Strauss, Kevin A. ; Williams, Katie B. ; Carson, Vincent J....
Molecular Genetics and Metabolism.  131 (2020)  3 - p. 325-340 , 2020
Link: https://doi.org/10.1016/..
 
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10

Crigler‐Najjar Syndrome Type 1: Pathophysiology, Natural Hi..:

Strauss, Kevin A. ; Ahlfors, Charles E. ; Soltys, Kyle...
Hepatology.  71 (2020)  6 - p. 1923-1939 , 2020
Link: https://doi.org/10.1002/..
 
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11

Development of a Novel Next-Generation Sequencing Assay for..:

Crowgey, Erin L. ; Washburn, Michael C. ; Kolb, E. Anders.
The Journal of Molecular Diagnostics.  21 (2019)  4 - p. 687-694 , 2019
Link: https://doi.org/10.1016/..
 
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12

Recessive GM3 synthase deficiency: Natural history, biochem..:

Bowser, Lauren E. ; Young, Millie ; Wenger, Olivia K....
Molecular Genetics and Metabolism.  126 (2019)  4 - p. 475-488 , 2019
Link: https://doi.org/10.1016/..
 
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13

Genomic diagnostics within a medically underserved populati..:

Strauss, Kevin A. ; Gonzaga-Jauregui, Claudia ; Brigatti, Karlla W....
Genetics in Medicine.  20 (2018)  1 - p. 31-41 , 2018
Link: https://doi.org/10.1038/..
 
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14

Spinal muscular atrophy within Amish and Mennonite populati..:

Carson, Vincent J. ; Puffenberger, Erik G. ; Bowser, Lauren E....
PLOS ONE.  13 (2018)  9 - p. e0202104 , 2018
Link: https://doi.org/10.1371/..
 
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15

Homozygosity for a mutation affecting the catalytic domain ..:

Williams, Katie B ; Brigatti, Karlla W ; Puffenberger, Erik G...
Human Molecular Genetics.  28 (2018)  4 - p. 525-538 , 2018
Link: https://doi.org/10.1093/..
 
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