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P462: Importance of genomic reanalysis to uncover medical unknowns: A UDN case with phenotypic extension of spondyloepimetaphyseal dysplasia with hypomyelinating leukodystrophy
by
Fulmer, Makenzie
,
Velinder, Matt
,
Andrews, Ashley
,
Butterfield, Russell
,
Mao, Rong
,
Santucci, Kourtney
,
Botto, Lorenzo
,
Bayrak-Toydemir, Pinar
Published in
Genetics in Medicine Open
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O20: Beyond the genome: RNA sequencing resolves unique diagnostic challenges
by
Lewis, Robert
,
Fulmer, Makenzie
,
Zhao, Jian
,
Pizzo, Lucilla
,
Wen, Ting
,
O'Shea, John
,
Nicholas, Thomas
,
Boyden, Steven
,
Viskochil, David
,
Longo, Nicola
,
Andrews, Ashley
,
Baldwin, Erin
,
Velinder, Matt
,
Butterfield, Russell
,
Dent, Karin
,
Santucci, Kourtney
,
Larson, Austin
,
Mao, Rong
,
Botto, Lorenzo
,
Bayrak-Toydemir, Pinar
Published in
Genetics in Medicine Open
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Chromosome 8p Syndromes Clinical Presentation and Management Guidelines
by
Santucci, Kourtney
,
Malik, Kristina E
,
Angione, Katie
,
Bennink, Dana
,
Gerk, Andrea
,
Mancini, Drew
,
Stringfellow, Megan
,
Dinkel, Tristen
,
Demarest, Scott
,
Miele, Andrea S
,
Saenz, Margarita
Published in
Clinical genetics
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19. Effect of Duty Hours Standards on Pediatric Resident Education
by
Hebson, Camden L., MD
,
Santucci, Kourtney K., MD
,
Klopman, Andrea L., MD
,
Suchdev, Parminder, MD
,
Gardner, Lynn, MD
,
Buchter, Susie, MD
Published in
Academic pediatrics
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EDS-related Feeding Difficulties: Preventing the Placement of a Surgical Feeding Tube
by
Kilgore, Alexandra L
,
Hawa, Juliette T
,
Liu, Edwin
,
Belkind-Gerson, Jaime
,
Santucci, Kourtney Kuss
Published in
JPGN reports
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EDS-related Feeding Difficulties: Preventing the Placement of a Surgical Feeding Tube
by
Kilgore, Alexandra L
,
Hawa, Juliette T
,
Liu, Edwin
,
Belkind-Gerson, Jaime
,
Santucci, Kourtney Kuss
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JPGN reports
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