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Burkardt, Deepika
26  results:
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1

P875: Home-based call: Description of the sleep impacts on ..:

Regier, Debra ; Quintana, Kiley ; Miller, Ilana.
Genetics in Medicine Open.  2 (2024)  - p. 101789 , 2024
Link: https://doi.org/10.1016/..
 
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2

P184: Hypermobility clinic: Innovative workflow supporting ..:

Chapman, Kimberly ; Vause, Spencer ; Berger, Seth...
Genetics in Medicine Open.  2 (2024)  - p. 101081 , 2024
Link: https://doi.org/10.1016/..
 
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3

Bone health in isovaleric acidemia:

Burkardt, Deepika ; MacLeod, Erin ; Shur, Natasha..
Molecular Genetics and Metabolism.  141 (2024)  4 - p. 108210 , 2024
Link: https://doi.org/10.1016/..
 
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4

P676: Deciphering the collagen code: Navigating variant cur..:

Robertson, Pamela Ajuyah ; Byrne, Alicia ; Ratliff, Julie...
Genetics in Medicine Open.  2 (2024)  - p. 101580 , 2024
Link: https://doi.org/10.1016/..
 
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5

Congenital adrenal hyperplasia due to two rare CYP21A2 vari..:

Lao, Qizong ; Burkardt, Deepika D. ; Kollender, Sarah..
Molecular Genetics & Genomic Medicine.  11 (2023)  7 - p. , 2023
Link: https://doi.org/10.1002/..
 
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6

Upregulated heme biosynthesis increases obstructive sleep a..:

Wang, Heming ; Kurniansyah, Nuzulul ; Cade, Brian E....
Scientific Reports.  12 (2022)  1 - p. , 2022
Link: https://doi.org/10.1038/..
 
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7

Never quit on hills: John M. Graham, Jr. MD, ScD, as mentor:

Burkardt, Deepika D.
American Journal of Medical Genetics Part A.  185 (2021)  9 - p. 2650-2652 , 2021
Link: https://doi.org/10.1002/..
 
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8

Proximal variants in CCND2 associated with microcephaly, sh..:

Pirozzi, Filomena ; Lee, Benson ; Horsley, Nicole...
American Journal of Medical Genetics Part A.  185 (2021)  9 - p. 2719-2738 , 2021
Link: https://doi.org/10.1002/..
 
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9

PTPN4 germline variants result in aberrant neurodevelopment..:

Chmielewska, Joanna J. ; Burkardt, Deepika ; Granadillo, Jorge Luis...
Human Genetics and Genomics Advances.  2 (2021)  3 - p. 100033 , 2021
Link: https://doi.org/10.1016/..
 
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10

Approach to overgrowth syndromes in the genome era:

Burkardt, Deepika D. ; Tatton‐Brown, Katrina ; Dobyns, William.
American Journal of Medical Genetics Part C: Seminars in Medical Genetics.  181 (2019)  4 - p. 483-490 , 2019
Link: https://doi.org/10.1002/..
 
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11

PRC2‐complex related dysfunction in overgrowth syndromes: A..:

Cyrus, Sharri ; Burkardt, Deepika ; Weaver, David D..
American Journal of Medical Genetics Part C: Seminars in Medical Genetics.  181 (2019)  4 - p. 519-531 , 2019
Link: https://doi.org/10.1002/..
 
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12

HIST1H1E heterozygous protein‐truncating variants cause a r..:

Burkardt, Deepika D'Cunha ; Zachariou, Anna ; Loveday, Chey...
American Journal of Medical Genetics Part A.  179 (2019)  10 - p. 2049-2055 , 2019
Link: https://doi.org/10.1002/..
 
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13

Pearson Syndrome: A Rare Cause of Failure to Thrive in Infa..:

Pronman, Lauren ; Rondinelli, Monica ; Burkardt, Deepika D'Cunha...
Clinical Pediatrics.  58 (2019)  7 - p. 819-824 , 2019
Link: https://doi.org/10.1177/..
 
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14

Hospital-based Acute Care After Outpatient Colonoscopy: Imp..:

Fox, Justin P. ; Burkardt, Deepika D'Cunha ; Ranasinghe, Isuru.
Medical Care.  52 (2014)  9 - p. 801-808 , 2014
Link: https://www.jstor.org/st..
 
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15

Abnormal Body Size and Proportion:

, In: Emery and Rimoin's Principles and Practice of Medical Genetics,
Graham Jr, John M. ; Burkardt, Deepika D'Cunha ; Rimoin, David L. - p. 1-25 , 2013
Link: https://doi.org/10.1016/..
 
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