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Nikki Ledbetter
Observed institutions:
Emory University,
Geisinger Health System
OpenAlex ID:
A5048814569
Toward clinical genomics in everyday medicine: perspectives and recommendations
2016
·
Susan K. Delaney
, Michael L. Hultner
, et al.
·
Expert Review of Molecular Diagnostics
·
105
PDF
Chiari I malformation, delayed gross motor skills, severe speech delay, and epileptiform discharges in a child with FOXP1 haploinsufficiency
2010
·
Christopher W Carr
, Daniel Moreno-De-Luca
, et al.
·
European Journal of Human Genetics
·
87
PDF
Primary Coenzyme Q 10 Deficiency
1993
·
Adam Mp
, Ardinger Hh
, et al.
·
Padua Research Archive (University of Padova)
·
38
PDF
Classic Galactosemia and Clinical Variant Galactosemia -- GeneReviews(®)
2016
·
Pagon Ra
, Adam Mp
, et al.
·
7
Neurodegeneration with Brain Iron Accumulation Disorders Overview -- GeneReviews(®)
2016
·
Pagon Ra
, Adam Mp
, et al.
·
7
Urea Cycle Disorders Overview -- GeneReviews(®)
2016
·
Pagon Ra
, Adam Mp
, et al.
·
6
Charcot-Marie-Tooth (CMT) Hereditary Neuropathy Overview -- GeneReviews®
2016
·
Pagon Ra
, Adam Mp
, et al.
·
6
Friedreich Ataxia -- GeneReviews(®)
2016
·
Pagon Ra
, Adam Mp
, et al.
·
3
Fanconi Anemia -- GeneReviews(®)
2016
·
Pagon Ra
, Adam Mp
, et al.
·
3
Hereditary Folate Malabsorption -- GeneReviews®
2016
·
Pagon Ra
, Adam Mp
, et al.
·
3
FOXP2-Related Speech and Language Disorders -- GeneReviews(®)
2016
·
Pagon Ra
, Adam Mp
, et al.
·
3
Short-Chain Acyl-CoA Dehydrogenase Deficiency -- GeneReviews(®)
2016
·
Pagon Ra
, Adam Mp
, et al.
·
3
15q Duplication Syndrome and Related Disorders -- GeneReviews®
2016
·
Pagon Ra
, Adam Mp
, et al.
·
3
Mitochondrial DNA-Associated Leigh Syndrome and NARP -- GeneReviews®
2016
·
Pagon Ra
, Adam Mp
, et al.
·
3
NKX2-1-Related Disorders -- GeneReviews(®)
2016
·
Pagon Ra
, Adam Mp
, et al.
·
2
Systemic Primary Carnitine Deficiency -- GeneReviews(®)
2016
·
Pagon Ra
, Adam Mp
, et al.
·
2
EPB42-Related Hereditary Spherocytosis -- GeneReviews(®)
2016
·
Pagon Ra
, Adam Mp
, et al.
·
2
Hereditary Hemorrhagic Telangiectasia -- GeneReviews(®)
2016
·
Pagon Ra
, Adam Mp
, et al.
·
2
KCNQ2-Related Disorders -- GeneReviews®
2016
·
Pagon Ra
, Adam Mp
, et al.
·
2
Charcot-Marie-Tooth Neuropathy Type 1 -- GeneReviews(®)
2016
·
Pagon Ra
, Adam Mp
, et al.
·
2
CDC73-Related Disorders -- GeneReviews(®)
2016
·
Pagon Ra
, Adam Mp
, et al.
·
2
Glycogen Storage Disease Type III -- GeneReviews®
2016
·
Pagon Ra
, Adam Mp
, et al.
·
2
Autosomal Dominant Hyper IgE Syndrome -- GeneReviews(®)
2016
·
Pagon Ra
, Adam Mp
, et al.
·
2
Hereditary Multiple Osteochondromas -- GeneReviews(®)
2016
·
Pagon Ra
, Adam Mp
, et al.
·
2
MYH9-Related Disorders -- GeneReviews(®)
2016
·
Pagon Ra
, Adam Mp
, et al.
·
2
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Works count:
179
Citation count:
345
H-index:
6
I10-index:
3
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