E-LIB Suche - Ergebnisse für: Ganetzky, Rebecca D - Sprache DE

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1

Biallelic variants in OGDH encoding oxoglutarate dehydrogen..:

Whittle, Ella F ; Chilian, Madison ; Karimiani, Ehsan Ghayoor...
10.1016/j.gim.2022.11.001. , 2023

Link: http://hdl.handle.net/10..

2

Optimized Nutrition in Mitochondrial Disease Correlates to ..:

DiVito, Donna ; Wellik, Amanda ; Burfield, Jessica...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10684455/. , 2023

Link: http://www.ncbi.nlm.nih...

3

Perspectives of Rare Disease Experts on Newborn Genome Sequ..:

Gold, Nina B ; Adelson, Sophia M ; Shah, Nidhi...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10167563/. , 2023

Link: http://www.ncbi.nlm.nih...

4

Biochemical characterization of patients with dihydrolipoam..:

Wongkittichote, Parith ; Cuddapah, Sanmati R ; Master, Stephen R...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10494496/. , 2023

Link: http://www.ncbi.nlm.nih...

5

Genotypic and phenotypic spectrum of infantile liver failur..:

Vogel, Georg F ; Mozer-Glassberg, Yael ; Landau, Yuval E...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.gim.2022.09.015. , 2023

Link: https://repository.vu.lt..

6

Biallelic variants in OGDH encoding oxoglutarate dehydrogen..:

Whittle, Ella F ; Chilian, Madison ; Karimiani, Ehsan Ghayoor...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9905285/. , 2023

Link: http://www.ncbi.nlm.nih...

7

A homozygous splice variant in ATP5PO, disrupts mitochondri..:

Ganapathi, Mythily ; Friocourt, Gaelle ; Gueguen, Naig...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9474623/. , 2022

Link: http://www.ncbi.nlm.nih...

8

Congenital hypermetabolism and uncoupled oxidative phosphor..:

Ganetzky, Rebecca D ; Markhard, Andrew L ; Yee, Irene...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9754853/. , 2022

Link: http://www.ncbi.nlm.nih...

9

Pathogenic mtDNA variants, in particular single large-scale..:

Elander, Johanna ; McCormick, Elizabeth M ; Värendh, Maria...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9881581/. , 2022

Link: http://www.ncbi.nlm.nih...

10

Congenital adrenal calcifications as the first clinical ind..:

Ron, Hayley A ; Scobell, Rebecca ; Strong, Amy..
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9548492/. , 2022

Link: http://www.ncbi.nlm.nih...

11

Variants in ADD1 cause intellectual disability, corpus call..:

Qi, Cai ; Feng, Irena ; Costa, Ana Rita...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8802223/. , 2022

Link: http://www.ncbi.nlm.nih...

12

Advanced approach for comprehensive mtDNA genome testing in..:

Wang, Jing ; Balciuniene, Jorune ; Diaz-Miranda, Maria Alejandra...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8877466/. , 2022

Link: http://www.ncbi.nlm.nih...

13

Malate dehydrogenase 2 deficiency is an emerging cause of p..:

Priestley, Jessica R.C ; Pace, Lisa M ; Sen, Kuntal...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9676216/. , 2022

Link: http://www.ncbi.nlm.nih...

14

Contraceptive use in women with inherited metabolic disorde..:

Gold, Jessica I ; Gold, Nina B ; DeLeon, Diva D.
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8822780/. , 2022

Link: http://www.ncbi.nlm.nih...

15

Biallelic variants in OGDH encoding oxoglutarate dehydrogen..:

Whittle, Ella F ; Chilian, Madison ; Karimiani, Ehsan Ghayoor...
https://discovery.ucl.ac.uk/id/eprint/10162085/1/1-s2.0-S1098360022010000-main.pdf. , 2022

Link: https://discovery.ucl.ac..

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