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B

Bo Hoon Lee

university of rochester
H指数:10
被引数:640

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COASY-Associated Disorders as a Differential Diagnosis in Cases with Newborn Screening Results Suggestive of CPT-I

COASY相关障碍作为新生儿筛查结果提示CPT-I的鉴别诊断

International Journal of Neonatal Screening
IF4
2026-04-170
OAAI
Zinandré Stander; Amy L. White; Matthew Lynch; David Coman; Justin Rosati; Diana Bailey; Jessica Johnson; Bo Hoon Lee; ChinTo Fong; Joseph Orsini; Matthew J. Schultz; Devin Oglesbee; Dimitar Gavrilov; Dietrich Matern; Patricia L. Hall; Silvia Tortorelli
Long-Term Follow-Up Cares and Check Initiative: A Program to Advance Long-Term Follow-Up in Newborns Identified with a Disease through Newborn Screening

长期随访护理和检查计划: 通过新生儿筛查确定患有疾病的新生儿的长期随访计划

INTERNATIONAL JOURNAL OF NEONATAL SCREENING
IF4
2024-04-181
OAAI
Lietsch, Mei; Chan, Kee; Taylor, Jennifer; Lee, Bo Hoon; Ciafaloni, Emma; Kwon, Jennifer M.; Waldrop, Megan A.; Butterfield, Russell J.; Rathore, Geetanjali; Veerapandiyan, Aravindhan; Kapil, Arya; Parsons, Julie A.; Gibbons, Melissa; Brower, Amy
Implementation of population-based newborn screening reveals low incidence of spinal muscular atrophy

实施基于人群的新生儿筛查显示脊髓性肌萎缩症的发生率较低

GENETICS IN MEDICINE
IF6.2
2020-08-0152
OAAI
Kay, Denise M.; Stevens, Colleen F.; Parker, April; Saavedra-Matiz, Carlos A.; Sack, Virginia; Chung, Wendy K.; Chiriboga, Claudia A.; Engelstad, Kristin; Laureta, Emma; Farooq, Osman; Ciafaloni, Emma; Lee, Bo Hoon; Malek, Sohail; Treidler, Simona; Anziska, Yaacov; Delfiner, Leslie; Sakonju, Ai; Caggana, Michele
Treatment Responsiveness in KCNT1-Related Epilepsy
NEUROTHERAPEUTICS
IF6.9
2019-07-0161
OAAI
Fitzgerald, Mark P.; Fiannacca, Martina; Smith, Douglas M.; Gertler, Tracy S.; Gunning, Boudewijn; Syrbe, Steffen; Verbeek, Nienke; Stamberger, Hannah; Weckhuysen, Sarah; Ceulemans, Berten; Schoonjans, An-Sofie; Rossi, Massimiliano; Demarquay, Genevieve; Lesca, Gaetan; Olofsson, Kern; Koolen, D. A.; Hornemann, Frauke; Baulac, Stephanie; Rubboli, Guido; Minks, Kelly Q.; Lee, Bohoon; Helbig, Ingo; Dlugos, Dennis; Moller, Rikke S.; Bearden, David

研究方向

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E
Emma Ciafaloni
H 指数:49论文数:211被引数:8,635
S
Stella Deng
H 指数:5论文数:7被引数:84
D
Denise M. Kay
H 指数:34论文数:109被引数:6,739
S
Silvia Tortorelli
H 指数:38论文数:140被引数:3,780
A
Amy White
H 指数:13论文数:98被引数:846
A
Ai Sakonju
H 指数:10论文数:31被引数:985
O
Osman Farooq
H 指数:21论文数:96被引数:2,077
K
Kristin Engelstad
H 指数:33论文数:84被引数:4,306
Y
Yaacov Anziska
H 指数:12论文数:55被引数:685
J
Justin Rosati
H 指数:4论文数:14被引数:45