Results 241 to 250 of about 100,000 (276)
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[Analysis of metabolic profile and genetic variants for newborns with primary carnitine deficiency from Guangxi].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2021
G. Geng   +6 more
semanticscholar   +1 more source

Systemic Primary Carnitine Deficiency: A Case Report with Homozygoys SLC22A5 Gene Mutation.

Klinische Pädiatrie, 2022
Damla Yıldız   +5 more
semanticscholar   +1 more source

[Preimplantation genetic testing for a Chinese pedigree affected with Primary carnitine deficiency].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Jie Deng   +5 more
semanticscholar   +1 more source

Genomic predictors of response to PD-1 inhibition in children with germline DNA replication repair deficiency

Nature Medicine, 2022
Anirban Das   +2 more
exaly  

Primary Carnitine Deficiency

2009
Markus Braun-Falco   +199 more
openaire   +1 more source

Primary carnitine deficiency presenting as intractable seizures

Neurology India, 2015
Pancham, Kumar   +3 more
openaire   +2 more sources

Carnitine Deficiency, Primary

2009
Nils Peters   +199 more
openaire   +1 more source

Inherited PD-1 deficiency underlies tuberculosis and autoimmunity in a child

Nature Medicine, 2021
Masato Ogishi, Rui Yang, Caner Aytekin
exaly  

Poly(ADP-Ribose) polymerase (PARP) inhibitors: Exploiting a synthetic lethal strategy in the clinic

Ca-A Cancer Journal for Clinicians, 2011
Timothy A Yap, Johann Sebastian de Bono
exaly  

Primary Systemic Carnitine Deficiency

2009
Markus Braun-Falco   +199 more
openaire   +1 more source

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