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Babcock, Melanie
18
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1
The 100,000 Genomes Pilot on Rare Disease Diagnosis in Heal..:
Smedley, Damian
;
Smith, Katherine R
;
Martin, Antonio Rueda
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7613219/. , 2021
Link:
http://www.ncbi.nlm.nih...
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2
Mutational analysis of APOL1 in patients with Fechtner and ..:
McGredy, Maxine
;
Martignetti, John A
;
Babcock, Melanie
info:eu-repo/semantics/altIdentifier/doi/10.2147/AGG.S32886. , 2012
Link:
https://www.dovepress.co..
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3
Interstitial duplication of 22q13.2 in a girl with short st..:
Samanich, Joy
;
Montagna, Cristina
;
Morrow, Bernice E
.
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5020919/. , 2012
Link:
http://www.ncbi.nlm.nih...
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4
AT-rich repeats associated with chromosome 22q11.2 rearrang..:
Babcock, Melanie
;
Yatsenko, Svetlana
;
Stankiewicz, Pawel
..
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1832092. , 2007
Link:
http://www.ncbi.nlm.nih...
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5
Shuffling of Genes Within Low-Copy Repeats on 22q11 (LCR22)..:
Babcock, Melanie
;
Pavlicek, Adam
;
Spiteri, Elizabeth
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC403794. , 2003
Link:
http://www.ncbi.nlm.nih...
?
6
O13: Clinical validation of copy number alteration using pa..:
Kathleen Schieffer
;
David Gordon
;
Gregory Wheeler
...
http://www.sciencedirect.com/science/article/pii/S2949774423000572. , 2023
Link:
https://doi.org/10.1016/..
?
7
P424: An unusual recombinant chromosome 6 derived from a pa..:
Melanie Babcock
;
Emily Lancaster
;
Damara Ortiz
...
http://www.sciencedirect.com/science/article/pii/S2949774423004715. , 2023
Link:
https://doi.org/10.1016/..
?
8
P070: Discerning the meaning of cancer predisposition varia..:
Erica Macke
;
Kathleen Schieffer
;
Mariam Mathew
...
http://www.sciencedirect.com/science/article/pii/S2949774423000894. , 2023
Link:
https://doi.org/10.1016/..
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9
P654: Evaluation of the ClinGen/CGC/VICC Oncogenicity Guide..:
Wesley Goar
;
Kori Kuzma
;
Kathryn Stahl
...
http://www.sciencedirect.com/science/article/pii/S2949774423007197. , 2023
Link:
https://doi.org/10.1016/..
?
10
The HCI Aspects of Public Deployment of Research Chatbots: ..:
Behrooz, Morteza
;
Ngan, William
;
Lane, Joshua
...
http://arxiv.org/abs/2306.04765. , 2023
Link:
http://arxiv.org/abs/230..
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11
A G1528C Hadha knock-in mouse model recapitulates aspects o..:
Gaston, Garen
;
Babcock, Shannon
;
Ryals, Renee
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10465608/. , 2023
Link:
http://www.ncbi.nlm.nih...
?
12
Impairments in Blood Pressure Regulation and Cardiac Barore..:
Sailer, Christine
;
Edelmann, Hannah
;
Buchanan, Cullen
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7818348/. , 2021
Link:
http://www.ncbi.nlm.nih...
?
13
A G1528C Hadha knock-in mouse model recapitulates aspects o..:
Garen Gaston
;
Shannon Babcock
;
Renee Ryals
...
https://doi.org/10.1038/s42003-023-05268-1. , 2023
Link:
https://doi.org/10.1038/..
?
14
Substrate reduction therapy for Krabbe disease and metachro..:
Babcock, Michael C
;
Mikulka, Christina R
;
Wang, Bing
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8280112/. , 2021
Link:
http://www.ncbi.nlm.nih...
?
15
Coral larval recruitment in north-western Australia predict..:
Thomson, Damian P
;
Babcock, Russell C
;
Evans, Richard D
...
https://doi.org/10.1016/j.marenvres.2021.105318. , 2021
Link:
https://researchonline.j..
1-15