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Browsing by Author Rosenfeld, JA
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Showing results 1 to 3 of 3
Title
Author(s)
Issue Date
A complementary study approach unravels novel players in the pathoetiology of Hirschsprung disease
Journal:
PLoS Genetics
Mederer, T
Schmitteckert, S
Volz, J
Martinez, C
Roth, R
Thumberger, T
Eckstein, V
Scheuerer, J
Thoni, C
Lasitschka, F
Carstensen, L
Gunther, P
Holland-Cunz, S
Hofstra, R
Brosens, E
Rosenfeld, JA
Schaaf, CP
Schriemer, D
Ceccherini, I
Rusmini, M
Tilghman, J
Luzon-Toro, B
Torroglosa, A
Borrego, S
Tang, CSM
Garcia-Barcelo, MM
Tam, P
Paramasivam, N
Bewerunge-Hudler, M
De La Torre, C
Gretz, N
Rappold, GA
Romero, P
Niesler, B
McCallion, AS
2020
In the shadow of MEF2C: Genotype-phenotype correlation for 5q14.3q21 deletions
Proceeding/Conference:
Annual Meeting of the American Society of Human Genetics, ASHG 2013
Rosenfeld, JA
Stoate, K
Asamoah, A
Lebel, RR
Raskin, S
Russell, L
Chitayat, D
Chung, BHY
Ellison, JW
Schimmenti, LA
2013
Rare variants in ANO1, encoding a calcium-activated chloride channel, predispose to moyamoya disease
Journal:
Brain
Pinard, A
Ye, W
Fraser, SM
Rosenfeld, JA
Pichurin, P
Hickey, SE
Guo, D
Cecchi, AC
Boerio, ML
Guey, S
Aloui, C
Lee, K
Kraemer, M
Alyemni, SO
Bamshad, MJ
Nickerson, DA
Tournier-Lasserve, E
Haider, S
Jin, SC
Smith, ER
Kahle, KT
Jan, LY
He, M
Milewicz, DM
1-Sep-2023