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Archives of Disease in Childhood
|
February 24, 2000
Effect of genotype on changes in intelligence quotient after dietary relaxation in phenylketonuria and hyperphenylalaninaemia
L G Greeves, C C Patterson, D J Carson, et al.
Journal of Inherited Metabolic Disease
|
August 13, 1998
Diagnosis and management of glutaric aciduria type I
I Barić, J Zschocke, E Christensen, et al.
Neuropediatrics
|
August 23, 2007
Ataxia, delayed dentition and hypomyelination: a novel leukoencephalopathy
N I Wolf, I Harting, A M Innes, et al.
Journal of Medical Genetics
|
January 24, 2007
Abnormal sterol metabolism in holoprosencephaly: studies in cultured lymphoblasts
D Haas, J Morgenthaler, F Lacbawan, et al.
Clinical Genetics
|
January 4, 2012
High frequency of p.Thr93Met in Smith-Lemli-Opitz syndrome patients in Turkey
S Kalb, A O Caglayan, A Degerliyurt, et al.
Journal of Inherited Metabolic Disease
|
January 31, 2003
Glutaric aciduria type III: a distinctive non-disease?
I Knerr, J Zschocke, U Trautmann, et al.
Human Reproduction (Oxford, England)
|
December 29, 2020
Andrological findings in infertile men with two (biallelic) CFTR mutations: results of a multicentre study in Germany and Austria comprising 71 patients
S Rudnik-Schöneborn, M Messner, M Vockel, et al.
The British Journal of Dermatology
|
July 25, 2016
Morphological alterations in two siblings with autosomal recessive congenital ichthyosis associated with CYP4F22 mutations
R Gruber, G Rainer, A Weiss, et al.
Cytogenetic and Genome Research
|
April 21, 2012
Parental origin of de novo cytogenetically balanced reciprocal non-Robertsonian translocations
M Höckner, A Spreiz, A Frühmesser, et al.
Neurology
|
May 26, 2004
Infantile Parkinsonism-dystonia and elevated dopamine metabolites in CSF
B E Assmann, R O Robinson, R A H Surtees, et al.
Page
of 9
Search research articles
Search
Showing results (61-70 of 86) with videos related to
Sort By:
Page
of 9
Archives of Disease in Childhood
|
February 24, 2000
Effect of genotype on changes in intelligence quotient after dietary relaxation in phenylketonuria and hyperphenylalaninaemia
L G Greeves, C C Patterson, D J Carson, et al.
Journal of Inherited Metabolic Disease
|
August 13, 1998
Diagnosis and management of glutaric aciduria type I
I Barić, J Zschocke, E Christensen, et al.
Neuropediatrics
|
August 23, 2007
Ataxia, delayed dentition and hypomyelination: a novel leukoencephalopathy
N I Wolf, I Harting, A M Innes, et al.
Journal of Medical Genetics
|
January 24, 2007
Abnormal sterol metabolism in holoprosencephaly: studies in cultured lymphoblasts
D Haas, J Morgenthaler, F Lacbawan, et al.
Clinical Genetics
|
January 4, 2012
High frequency of p.Thr93Met in Smith-Lemli-Opitz syndrome patients in Turkey
S Kalb, A O Caglayan, A Degerliyurt, et al.
Journal of Inherited Metabolic Disease
|
January 31, 2003
Glutaric aciduria type III: a distinctive non-disease?
I Knerr, J Zschocke, U Trautmann, et al.
Human Reproduction (Oxford, England)
|
December 29, 2020
Andrological findings in infertile men with two (biallelic) CFTR mutations: results of a multicentre study in Germany and Austria comprising 71 patients
S Rudnik-Schöneborn, M Messner, M Vockel, et al.
The British Journal of Dermatology
|
July 25, 2016
Morphological alterations in two siblings with autosomal recessive congenital ichthyosis associated with CYP4F22 mutations
R Gruber, G Rainer, A Weiss, et al.
Cytogenetic and Genome Research
|
April 21, 2012
Parental origin of de novo cytogenetically balanced reciprocal non-Robertsonian translocations
M Höckner, A Spreiz, A Frühmesser, et al.
Neurology
|
May 26, 2004
Infantile Parkinsonism-dystonia and elevated dopamine metabolites in CSF
B E Assmann, R O Robinson, R A H Surtees, et al.
Page
of 9