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The ability of an LC-MS/MS-based erythrocyte GALT enzyme assay to predict the phenotype in subjects with GALT deficiency. [electronic resource] by
- Demirbas, Didem
- Huang, Xiaoping
- Daesety, Vikram
- Feenstra, Susan
- Haskovic, Minela
- Qi, Wanshu
- Gubbels, Cynthia S
- Hecht, Leah
- Levy, Harvey L
- Waisbren, Susan E
- Berry, Gerard T
Producer: 20191107
In:
Molecular genetics and metabolism vol. 126
Availability: No items available.
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10.
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5,10-methenyltetrahydrofolate synthetase deficiency causes a neurometabolic disorder associated with microcephaly, epilepsy, and cerebral hypomyelination. [electronic resource] by
- Rodan, Lance H
- Qi, Wanshu
- Ducker, Gregory S
- Demirbas, Didem
- Laine, Regina
- Yang, Edward
- Walker, Melissa A
- Eichler, Florian
- Rabinowitz, Joshua D
- Anselm, Irina
- Berry, Gerard T
Producer: 20190426
In:
Molecular genetics and metabolism vol. 125
Availability: No items available.
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11.
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Phenotypic variability in deficiency of the α subunit of succinate-CoA ligase. [electronic resource] by
- Demirbas, Didem
- Harris, David J
- Arn, Pamela H
- Huang, Xiaoping
- Waisbren, Susan E
- Anselm, Irina
- Lerner-Ellis, Jordan P
- Wong, Lee-Jun
- Levy, Harvey L
- Berry, Gerard T
Publication details: JIMD reports Mar 2019
In:
JIMD reports vol. 46
Availability: No items available.
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12.
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Succinyl-CoA synthetase (SUCLA2) deficiency in two siblings with impaired activity of other mitochondrial oxidative enzymes in skeletal muscle without mitochondrial DNA depletion. [electronic resource] by
- Huang, Xiaoping
- Bedoyan, Jirair K
- Demirbas, Didem
- Harris, David J
- Miron, Alexander
- Edelheit, Simone
- Grahame, George
- DeBrosse, Suzanne D
- Wong, Lee-Jun
- Hoppel, Charles L
- Kerr, Douglas S
- Anselm, Irina
- Berry, Gerard T
Producer: 20170829
In:
Molecular genetics and metabolism vol. 120
Availability: No items available.
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13.
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A novel null mutation in the pyruvate dehydrogenase phosphatase catalytic subunit gene ( [electronic resource] by
- Bedoyan, Jirair K
- Hecht, Leah
- Zhang, Shulin
- Tarrant, Stacey
- Bergin, Ann
- Demirbas, Didem
- Yang, Edward
- Shin, Ha Kyung
- Grahame, George J
- DeBrosse, Suzanne D
- Hoppel, Charles L
- Kerr, Douglas S
- Berry, Gerard T
Publication details: JIMD reports Jul 2019
In:
JIMD reports vol. 48
Availability: No items available.
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14.
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KCNQ1, KCNE2, and Na+-coupled solute transporters form reciprocally regulating complexes that affect neuronal excitability. [electronic resource] by
- Abbott, Geoffrey W
- Tai, Kwok-Keung
- Neverisky, Daniel L
- Hansler, Alex
- Hu, Zhaoyang
- Roepke, Torsten K
- Lerner, Daniel J
- Chen, Qiuying
- Liu, Li
- Zupan, Bojana
- Toth, Miklos
- Haynes, Robin
- Huang, Xiaoping
- Demirbas, Didem
- Buccafusca, Roberto
- Gross, Steven S
- Kanda, Vikram A
- Berry, Gerard T
Producer: 20141021
In:
Science signaling vol. 7
Availability: No items available.
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15.
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Arginine does not rescue p.Q188R mutation deleterious effect in classic galactosemia. [electronic resource] by
- Haskovic, Minela
- Derks, Britt
- van der Ploeg, Liesbeth
- Trommelen, Jorn
- Nyakayiru, Jean
- van Loon, Luc J C
- Mackinnon, Sabrina
- Yue, Wyatt W
- Peake, Roy W A
- Zha, Li
- Demirbas, Didem
- Qi, Wanshu
- Huang, Xiaoping
- Berry, Gerard T
- Achten, Jelle
- Bierau, Jörgen
- Rubio-Gozalbo, M Estela
- Coelho, Ana I
Producer: 20190415
In:
Orphanet journal of rare diseases vol. 13
Availability: No items available.
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16.
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A comparison of non-integrating reprogramming methods. [electronic resource] by
- Schlaeger, Thorsten M
- Daheron, Laurence
- Brickler, Thomas R
- Entwisle, Samuel
- Chan, Karrie
- Cianci, Amelia
- DeVine, Alexander
- Ettenger, Andrew
- Fitzgerald, Kelly
- Godfrey, Michelle
- Gupta, Dipti
- McPherson, Jade
- Malwadkar, Prerana
- Gupta, Manav
- Bell, Blair
- Doi, Akiko
- Jung, Namyoung
- Li, Xin
- Lynes, Maureen S
- Brookes, Emily
- Cherry, Anne B C
- Demirbas, Didem
- Tsankov, Alexander M
- Zon, Leonard I
- Rubin, Lee L
- Feinberg, Andrew P
- Meissner, Alexander
- Cowan, Chad A
- Daley, George Q
Producer: 20150925
In:
Nature biotechnology vol. 33
Availability: No items available.
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