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Four-year prospective clinical trial of agalsidase alfa in children with Fabry disease. [electronic resource] by
- Schiffmann, Raphael
- Martin, Rick A
- Reimschisel, Tyler
- Johnson, Karen
- Castaneda, Victoria
- Lien, Y Howard
- Pastores, Gregory M
- Kampmann, Christoph
- Ries, Markus
- Clarke, Joe T R
Producer: 20100503
In:
The Journal of pediatrics vol. 156
Availability: No items available.
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9.
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Heart Transplantation in Children with Mitochondrial Disease. [electronic resource] by
- Weiner, Jeffrey G
- Lambert, Andrea N
- Thurm, Cary
- Hall, Matt
- Soslow, Jonathan H
- Reimschisel, Tyler E
- Bearl, David W
- Dodd, Debra A
- Feingold, Brian
- Godown, Justin
Producer: 20200727
In:
The Journal of pediatrics vol. 217
Availability: No items available.
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10.
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Comprehensive assessment of serious adverse events following immunization by health care providers. [electronic resource] by
- Williams, S Elizabeth
- Edwards, Kathryn M
- Baxter, Roger P
- LaRussa, Philip S
- Halsey, Neal A
- Dekker, Cornelia L
- Vellozzi, Claudia
- Marchant, Colin D
- Donofrio, Peter D
- Reimschisel, Tyler E
- Berger, Melvin
- Gidudu, Jane F
- Klein, Nicola P
Producer: 20130806
In:
The Journal of pediatrics vol. 162
Availability: No items available.
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11.
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High-frequency detection of deletions and variable rearrangements at the ornithine transcarbamylase (OTC) locus by oligonucleotide array CGH. [electronic resource] by
- Shchelochkov, Oleg A
- Li, Fang-Yuan
- Geraghty, Michael T
- Gallagher, Renata C
- Van Hove, Johan L
- Lichter-Konecki, Uta
- Fernhoff, Paul M
- Copeland, Sara
- Reimschisel, Tyler
- Cederbaum, Stephen
- Lee, Brendan
- Chinault, A Craig
- Wong, Lee-Jun
Producer: 20090320
In:
Molecular genetics and metabolism vol. 96
Availability: No items available.
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12.
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Early-onset seizures due to mosaic exonic deletions of CDKL5 in a male and two females. [electronic resource] by
- Bartnik, Magdalena
- Derwińska, Katarzyna
- Gos, Monika
- Obersztyn, Ewa
- Kołodziejska, Katarzyna E
- Erez, Ayelet
- Szpecht-Potocka, Agnieszka
- Fang, Ping
- Terczyńska, Iwona
- Mierzewska, Hanna
- Lohr, Naomi J
- Bellus, Gary A
- Reimschisel, Tyler
- Bocian, Ewa
- Mazurczak, Tadeusz
- Cheung, Sau Wai
- Stankiewicz, Paweł
Producer: 20110825
In:
Genetics in medicine : official journal of the American College of Medical Genetics vol. 13
Availability: No items available.
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13.
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Phenotypic manifestations of copy number variation in chromosome 16p13.11. [electronic resource] by
- Nagamani, Sandesh C Sreenath
- Erez, Ayelet
- Bader, Patricia
- Lalani, Seema R
- Scott, Daryl A
- Scaglia, Fernando
- Plon, Sharon E
- Tsai, Chun-Hui
- Reimschisel, Tyler
- Roeder, Elizabeth
- Malphrus, Amy D
- Eng, Patricia A
- Hixson, Patricia M
- Kang, Sung-Hae L
- Stankiewicz, Pawel
- Patel, Ankita
- Cheung, Sau Wai
Producer: 20110531
In:
European journal of human genetics : EJHG vol. 19
Availability: No items available.
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14.
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Clinical heterogeneity of mitochondrial NAD kinase deficiency caused by a NADK2 start loss variant. [electronic resource] by
- Pomerantz, Daniel J
- Ferdinandusse, Sacha
- Cogan, Joy
- Cooper, David N
- Reimschisel, Tyler
- Robertson, Amy
- Bican, Anna
- McGregor, Tracy
- Gauthier, Jackie
- Millington, David S
- Andrae, Jaime L W
- Tschannen, Michael R
- Helbling, Daniel C
- Demos, Wendy M
- Denis, Simone
- Wanders, Ronald J A
- Newman, John N
- Hamid, Rizwan
- Phillips, John A
Producer: 20190228
In:
American journal of medical genetics. Part A vol. 176
Availability: No items available.
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15.
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Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148. [electronic resource] by
- Dharmadhikari, Avinash V
- Kang, Sung-Hae L
- Szafranski, Przemyslaw
- Person, Richard E
- Sampath, Srirangan
- Prakash, Siddharth K
- Bader, Patricia I
- Phillips, John A
- Hannig, Vickie
- Williams, Misti
- Vinson, Sherry S
- Wilfong, Angus A
- Reimschisel, Tyler E
- Craigen, William J
- Patel, Ankita
- Bi, Weimin
- Lupski, James R
- Belmont, John
- Cheung, Sau Wai
- Stankiewicz, Pawel
Producer: 20130625
In:
Human molecular genetics vol. 21
Availability: No items available.
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16.
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Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A. [electronic resource] by
- Campbell, Ian M
- Yatsenko, Svetlana A
- Hixson, Patricia
- Reimschisel, Tyler
- Thomas, Matthew
- Wilson, William
- Dayal, Usha
- Wheless, James W
- Crunk, Amy
- Curry, Cynthia
- Parkinson, Nicole
- Fishman, Leona
- Riviello, James J
- Nowaczyk, Malgorzata J M
- Zeesman, Susan
- Rosenfeld, Jill A
- Bejjani, Bassem A
- Shaffer, Lisa G
- Cheung, Sau Wai
- Lupski, James R
- Stankiewicz, Pawel
- Scaglia, Fernando
Producer: 20130211
In:
Genetics in medicine : official journal of the American College of Medical Genetics vol. 14
Availability: No items available.
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17.
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Inside the 8p23.1 duplication syndrome; eight microduplications of likely or uncertain clinical significance. [electronic resource] by
- Barber, John C K
- Rosenfeld, Jill A
- Graham, John M
- Kramer, Nancy
- Lachlan, Katherine L
- Bateman, Mark S
- Collinson, Morag N
- Stadheim, Barbro Fossøy
- Turner, Claire L S
- Gauthier, Jacqueline N
- Reimschisel, Tyler E
- Qureshi, Athar M
- Dabir, Tabib A
- Humphreys, Mervyn W
- Marble, Michael
- Huang, Taosheng
- Beal, Sarah J
- Massiah, Joanne
- Taylor, Emma-Jane
- Wynn, Sarah L
Producer: 20160519
In:
American journal of medical genetics. Part A vol. 167A
Availability: No items available.
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18.
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Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia. [electronic resource] by
- Nguyen, Thi Tuyet Mai
- Murakami, Yoshiko
- Sheridan, Eamonn
- Ehresmann, Sophie
- Rousseau, Justine
- St-Denis, Anik
- Chai, Guoliang
- Ajeawung, Norbert F
- Fairbrother, Laura
- Reimschisel, Tyler
- Bateman, Alexandra
- Berry-Kravis, Elizabeth
- Xia, Fan
- Tardif, Jessica
- Parry, David A
- Logan, Clare V
- Diggle, Christine
- Bennett, Christopher P
- Hattingh, Louise
- Rosenfeld, Jill A
- Perry, Michael Scott
- Parker, Michael J
- Le Deist, Françoise
- Zaki, Maha S
- Ignatius, Erika
- Isohanni, Pirjo
- Lönnqvist, Tuula
- Carroll, Christopher J
- Johnson, Colin A
- Gleeson, Joseph G
- Kinoshita, Taroh
- Campeau, Philippe M
Producer: 20171113
In:
American journal of human genetics vol. 101
Availability: No items available.
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19.
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Practice patterns of mitochondrial disease physicians in North America. Part 1: diagnostic and clinical challenges. [electronic resource] by
- Parikh, Sumit
- Goldstein, Amy
- Koenig, Mary Kay
- Scaglia, Fernando
- Enns, Gregory M
- Saneto, Russell
- Anselm, Irina
- Collins, Abigail
- Cohen, Bruce H
- DeBrosse, Suzanne D
- Dimmock, David
- Falk, Marni J
- Ganesh, Jaya
- Greene, Carol
- Gropman, Andrea L
- Haas, Richard
- Kahler, Stephen G
- Kamholz, John
- Kendall, Fran
- Korson, Mark S
- Mattman, Andre
- Milone, Margherita
- Niyazov, Dmitriy
- Pearl, Phillip L
- Reimschisel, Tyler
- Salvarinova-Zivkovic, Ramona
- Sims, Katherine
- Tarnopolsky, Mark
- Tsao, Chang-Yong
- van Hove, Johan
- Walsh, Laurence
- Wolfe, Lynne A
Producer: 20140919
In:
Mitochondrion vol. 14
Availability: No items available.
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20.
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Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society. [electronic resource] by
- Parikh, Sumit
- Goldstein, Amy
- Karaa, Amel
- Koenig, Mary Kay
- Anselm, Irina
- Brunel-Guitton, Catherine
- Christodoulou, John
- Cohen, Bruce H
- Dimmock, David
- Enns, Gregory M
- Falk, Marni J
- Feigenbaum, Annette
- Frye, Richard E
- Ganesh, Jaya
- Griesemer, David
- Haas, Richard
- Horvath, Rita
- Korson, Mark
- Kruer, Michael C
- Mancuso, Michelangelo
- McCormack, Shana
- Raboisson, Marie Josee
- Reimschisel, Tyler
- Salvarinova, Ramona
- Saneto, Russell P
- Scaglia, Fernando
- Shoffner, John
- Stacpoole, Peter W
- Sue, Carolyn M
- Tarnopolsky, Mark
- Van Karnebeek, Clara
- Wolfe, Lynne A
- Cunningham, Zarazuela Zolkipli
- Rahman, Shamima
- Chinnery, Patrick F
Producer: 20180717
In:
Genetics in medicine : official journal of the American College of Medical Genetics vol. 19
Availability: No items available.
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