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Progressive cerebral vascular degeneration with mitochondrial encephalopathy. [electronic resource] by
- Longo, Nicola
- Schrijver, Iris
- Vogel, Hannes
- Pique, Lynn M
- Cowan, Tina M
- Pasquali, Marzia
- Steinberg, Gary K
- Hedlund, Gary L
- Ernst, Sharon L
- Gallagher, Renata C
- Enns, Gregory M
Producer: 20080610
In:
American journal of medical genetics. Part A vol. 146A
Availability: No items available.
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13.
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Clinical features and management issues in Mowat-Wilson syndrome. [electronic resource] by
- Adam, Margaret P
- Schelley, Susan
- Gallagher, Renata
- Brady, April N
- Barr, Kimberly
- Blumberg, Bruce
- Shieh, Joseph T C
- Graham, John
- Slavotinek, Anne
- Martin, Madelena
- Keppler-Noreuil, Kim
- Storm, Andrea L
- Hudgins, Louanne
Producer: 20070125
In:
American journal of medical genetics. Part A vol. 140
Availability: No items available.
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14.
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Positive newborn screen for methylmalonic aciduria identifies the first mutation in TCblR/CD320, the gene for cellular uptake of transcobalamin-bound vitamin B(12). [electronic resource] by
- Quadros, Edward V
- Lai, Shao-Chiang
- Nakayama, Yasumi
- Sequeira, Jeffrey M
- Hannibal, Luciana
- Wang, Sihe
- Jacobsen, Donald W
- Fedosov, Sergey
- Wright, Erica
- Gallagher, Renata C
- Anastasio, Natascia
- Watkins, David
- Rosenblatt, David S
Producer: 20101020
In:
Human mutation vol. 31
Availability: No items available.
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15.
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Functional genetic diversity in the high-affinity carnitine transporter OCTN2 (SLC22A5). [electronic resource] by
- Urban, Thomas J
- Gallagher, Renata C
- Brown, Chaline
- Castro, Richard A
- Lagpacan, Leah L
- Brett, Claire M
- Taylor, Travis R
- Carlson, Elaine J
- Ferrin, Thomas E
- Burchard, Esteban G
- Packman, Seymour
- Giacomini, Kathleen M
Producer: 20061204
In:
Molecular pharmacology vol. 70
Availability: No items available.
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16.
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Mutation detection in DNA isolated from cerebrospinal fluid and urine: Clinical utility and pitfalls of multiple displacement amplification. [electronic resource] by
- Rosenberg, Efraim H
- Struys, Eduard A
- Hyland, Keith
- Plecko, Barbara
- Waters, Paula J
- Mercimek-Mahmutoglu, Saadet
- Stockler-Ipsiroglu, Sylvia
- Gallagher, Renata C
- Scharer, Gunter
- Van Hove, Johan L K
- Jakobs, Cornelis
- Salomons, Gajja S
Producer: 20090911
In:
Molecular genetics and metabolism vol. 97
Availability: No items available.
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17.
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Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy. [electronic resource] by
- Gallagher, Renata C
- Van Hove, Johan L K
- Scharer, Gunter
- Hyland, Keith
- Plecko, Barbara
- Waters, Paula J
- Mercimek-Mahmutoglu, Saadet
- Stockler-Ipsiroglu, Sylvia
- Salomons, Gajja S
- Rosenberg, Efraim H
- Struys, Eduard A
- Jakobs, Cornelis
Producer: 20090626
In:
Annals of neurology vol. 65
Availability: No items available.
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18.
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Succinyl-CoA ligase deficiency: a mitochondrial hepatoencephalomyopathy. [electronic resource] by
- Van Hove, Johan L K
- Saenz, Margarita S
- Thomas, Janet A
- Gallagher, Renata C
- Lovell, Mark A
- Fenton, Laura Z
- Shanske, Sarah
- Myers, Sommer M
- Wanders, Ronald J A
- Ruiter, Jos
- Turkenburg, Marjolein
- Waterham, Hans R
Producer: 20101008
In:
Pediatric research vol. 68
Availability: No items available.
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19.
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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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20.
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Pyridoxine-Dependent Epilepsy: An Expanding Clinical Spectrum. [electronic resource] by
- van Karnebeek, Clara D M
- Tiebout, Sylvia A
- Niermeijer, Jikkemien
- Poll-The, Bwee Tien
- Ghani, Aisha
- Coughlin, Curtis R
- Van Hove, Johan L K
- Richter, Jost Wigand
- Christen, Hans Juergen
- Gallagher, Renata
- Hartmann, Hans
- Stockler-Ipsiroglu, Sylvia
Producer: 20171215
In:
Pediatric neurology vol. 59
Availability: No items available.
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