94 sonuç bulundu Arama sonuçlarına abone ol
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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
Rafta:
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
Rafta:
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
Rafta:
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
Rafta:
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
Rafta:
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
Rafta:
Yazar 
Rezaei, Nima. editor. Aghamohammadi, Asghar. editor. Notarangelo, Luigi D. editor. SpringerLink (Online service)
Format: 
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Alıntı: 
knowledge and includes various PIDs not previously covered. For each disease, information is provided on
Rafta:
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
Rafta:
Yazar 
Kumar, Manoj. editor. Kumar, Vivek. editor. Bhalla-Sarin, Neera. editor. Varma, Ajit. editor. SpringerLink (Online service)
Format: 
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Alıntı: 
production and commercialization. It addresses disease management for a range of causal agents, including the
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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
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Yazar 
Dossena, Silvia. editor. Paulmichl, Markus. editor. SpringerLink (Online service)
Format: 
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Alıntı: 
recently found in a variety of other tissues and organs. Pendrin malfunction may cause a genetic disease
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