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Schweizerische Rundschau Fur Medizin Praxis = Revue Suisse De Medecine Praxis
|
September 3, 1991
[Variability of epileptic seizure phenomenology in infants and children]
F Vassella, F Donati, J M Penzien
American Journal of Human Genetics
|
July 10, 2001
Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia
L Bonafé, B Thöny, J M Penzien, et al.
Developmental Medicine and Child Neurology
|
November 1, 1990
Does migraine-related stroke occur in childhood?
L N Rossi, J M Penzien, T Deonna, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
March 4, 2000
Novel splice site mutation of aspartoacylase gene in a Turkish patient with Canavan disease
P L Rady, J M Penzien, T Vargas, et al.
European Journal of Pediatrics
|
May 1, 1994
Medium-chain acyl-CoA dehydrogenase deficiency does not correlate with apparent life-threatening events and the sudden infant death syndrome: results from phenylpropionate loading tests and DNA analysis
J M Penzien, G Molz, U N Wiesmann, et al.
Pediatric Neurology
|
September 12, 2001
Cranial MRI changes may precede symptoms in Hallervorden-Spatz syndrome
S J Hayflick, J M Penzien, W Michl, et al.
Schweizerische Medizinische Wochenschrift
|
November 21, 1992
[Glomerulonephritis with transient C3 hypoclompimentemia and endotheliomesangial glomerulonephritis in childhood. A long-term experience]
M J Rimediotti, M G Bianchetti, J M Penzien, et al.
American Journal of Human Genetics
|
March 1, 1993
Compound heterozygosity for metachromatic leukodystrophy and arylsulfatase A pseudodeficiency alleles is not associated with progressive neurological disease
J M Penzien, J Kappler, N Herschkowitz, et al.
Journal of Inherited Metabolic Disease
|
May 15, 2007
Effects of cholesterol and simvastatin treatment in patients with Smith-Lemli-Opitz syndrome (SLOS)
D Haas, S F Garbade, C Vohwinkel, et al.
Neuropediatrics
|
April 4, 2002
Congenital disorder of glycosylation IId (CDG-IId) -- a new entity: clinical presentation with Dandy-Walker malformation and myopathy
V Peters, J M Penzien, G Reiter, et al.
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Search research articles
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Showing results (1-10 of 10) with videos related to
Sort By:
Page
of 1
Schweizerische Rundschau Fur Medizin Praxis = Revue Suisse De Medecine Praxis
|
September 3, 1991
[Variability of epileptic seizure phenomenology in infants and children]
F Vassella, F Donati, J M Penzien
American Journal of Human Genetics
|
July 10, 2001
Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia
L Bonafé, B Thöny, J M Penzien, et al.
Developmental Medicine and Child Neurology
|
November 1, 1990
Does migraine-related stroke occur in childhood?
L N Rossi, J M Penzien, T Deonna, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
March 4, 2000
Novel splice site mutation of aspartoacylase gene in a Turkish patient with Canavan disease
P L Rady, J M Penzien, T Vargas, et al.
European Journal of Pediatrics
|
May 1, 1994
Medium-chain acyl-CoA dehydrogenase deficiency does not correlate with apparent life-threatening events and the sudden infant death syndrome: results from phenylpropionate loading tests and DNA analysis
J M Penzien, G Molz, U N Wiesmann, et al.
Pediatric Neurology
|
September 12, 2001
Cranial MRI changes may precede symptoms in Hallervorden-Spatz syndrome
S J Hayflick, J M Penzien, W Michl, et al.
Schweizerische Medizinische Wochenschrift
|
November 21, 1992
[Glomerulonephritis with transient C3 hypoclompimentemia and endotheliomesangial glomerulonephritis in childhood. A long-term experience]
M J Rimediotti, M G Bianchetti, J M Penzien, et al.
American Journal of Human Genetics
|
March 1, 1993
Compound heterozygosity for metachromatic leukodystrophy and arylsulfatase A pseudodeficiency alleles is not associated with progressive neurological disease
J M Penzien, J Kappler, N Herschkowitz, et al.
Journal of Inherited Metabolic Disease
|
May 15, 2007
Effects of cholesterol and simvastatin treatment in patients with Smith-Lemli-Opitz syndrome (SLOS)
D Haas, S F Garbade, C Vohwinkel, et al.
Neuropediatrics
|
April 4, 2002
Congenital disorder of glycosylation IId (CDG-IId) -- a new entity: clinical presentation with Dandy-Walker malformation and myopathy
V Peters, J M Penzien, G Reiter, et al.
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of 1