Yazar
Delgado-Morales, Raul. editor. SpringerLink (Online service)
Format:
Elektronik Kaynak
Alıntı:
diseases. During the last decade the emerging field of neuroepigenomics have started to impact tremendously
Yazar
Morava, Eva. editor. Baumgartner, Matthias. editor. Patterson, Marc. editor. Rahman, Shamima. editor. Zschocke, Johannes. editor.
Format:
Elektronik Kaynak
Alıntı:
Development Affected and Can Newborn Screening Be Improved? -- The Spectrum of Niemann-Pick Type C Disease in
Yazar
Morava, Eva. editor. Baumgartner, Matthias. editor. Patterson, Marc. editor. Rahman, Shamima. editor. Zschocke, Johannes. editor.
Format:
Elektronik Kaynak
Alıntı:
-- Dihydropyrimidine Dehydrogenase Deficiency: Metabolic Disease or Biochemical Phenotype? -- Potential Misdiagnosis of
Yazar
Morava, Eva. editor. Baumgartner, Matthias. editor. Patterson, Marc. editor. Rahman, Shamima. editor. Zschocke, Johannes. editor.
Format:
Elektronik Kaynak
Alıntı:
Movements: Very Common Problems in Fabry Disease -- Spurious Elevation of Multiple Urine Amino Acids by Ion
Yazar
Morava, Eva. editor. Baumgartner, Matthias. editor. Patterson, Marc. editor. Rahman, Shamima. editor. Zschocke, Johannes. editor.
Format:
Elektronik Kaynak
Alıntı:
-Hydroxybutyryl-CoA Dehydrogenase Deficiency (HSD10 Disease) Without Neurological Regression -- Newborn Screening for
Yazar
Morava, Eva. editor. Baumgartner, Matthias. editor. Patterson, Marc. editor. Rahman, Shamima. editor. Zschocke, Johannes. editor.
Format:
Elektronik Kaynak
Alıntı:
Alveolar Proteinosis in Lysinuric Protein Intolerance -- COXPD9 an Evolving Multisystem Disease
Başlık
Yazar
Rezaei, Nima. editor. Aghamohammadi, Asghar. editor. Notarangelo, Luigi D. editor. SpringerLink (Online service)
Format:
Elektronik Kaynak
Alıntı:
knowledge and includes various PIDs not previously covered. For each disease, information is provided on
Yazar
Morava, Eva. editor. Baumgartner, Matthias. editor. Patterson, Marc. editor. Rahman, Shamima. editor. Zschocke, Johannes. editor.
Format:
Elektronik Kaynak
Alıntı:
Epilepticus as a Possible Etiology of Sudden Death in Lesch-Nyhan Disease: A Case Report and Review of the
Yazar
Artik, Yakup Ayan, Alp, tez dnş.
Format:
Kitap
Alıntı:
Infectious diseases -- COVID-19 -- Theses
Yazar
Kumar, Manoj. editor. Kumar, Vivek. editor. Bhalla-Sarin, Neera. editor. Varma, Ajit. editor. SpringerLink (Online service)
Format:
Elektronik Kaynak
Alıntı:
production and commercialization. It addresses disease management for a range of causal agents, including the
Yazar
Koizumi, Akio. editor. Nagata, Kazuhiro. editor. Houkin, Kiyohiro. editor. Tominaga, Teiji. editor. Miyamoto, Susumu. editor.
Format:
Elektronik Kaynak
Alıntı:
Clinical Management -- 14. Vascular Diseases Attributable to RNF213 Other than Moyamoya Disease -- Part V
Yazar
Dossena, Silvia. editor. Paulmichl, Markus. editor. SpringerLink (Online service)
Format:
Elektronik Kaynak
Alıntı:
recently found in a variety of other tissues and organs. Pendrin malfunction may cause a genetic disease
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