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American Journal of Medical Genetics
|
May 3, 1996
Clinical and ultrastructural findings in three patients with geleophysic dysplasia
B F Pontz, H Stöss, F Henschke, et al.
American Journal of Medical Genetics
|
February 15, 1994
Achondrogenesis type IB (Fraccaro): study of collagen in the tissue and in chondrocytes cultured in agarose
P Freisinger, V Stanescu, B Jacob, et al.
American Journal of Medical Genetics
|
May 3, 1996
Type II collagenopathies: are there additional family members?
P Freisinger, J Bonaventure, H Stoess, et al.
Neuropediatrics
|
June 10, 2005
The eye-of-the-tiger sign is not a reliable disease marker for Hallervorden-Spatz syndrome
F A M Baumeister, D P Auer, K Hörtnagel, et al.
Acta Paediatrica (Oslo, Norway : 1992)
|
December 26, 2006
Identification of a novel compound heterozygote SCO2 mutation in cytochrome c oxidase deficient fatal infantile cardioencephalomyopathy
M Knuf, J Faber, R G Huth, et al.
Journal of Inherited Metabolic Disease
|
May 11, 1999
Carbohydrate-deficient glycoprotein syndrome type 2
H Engelhardt, M Staudt, A Hässler, et al.
Experimental Cell Research
|
May 1, 1994
Reexpression of cartilage-specific genes by dedifferentiated human articular chondrocytes cultured in alginate beads
J Bonaventure, N Kadhom, L Cohen-Solal, et al.
The Journal of Biological Chemistry
|
May 6, 1994
Mutation in the COL2A1 gene in a patient with hypochondrogenesis. Expression of mutated COL2A1 gene is accompanied by expression of genes for type I procollagen in chondrocytes
P Freisinger, L Ala-Kokko, D LeGuellec, et al.
Neuropediatrics
|
April 3, 2019
A De Novo Dominant Negative Mutation in DNM1L Causes Sudden Onset Status Epilepticus with Subsequent Epileptic Encephalopathy
S J Schmid, M Wagner, C Goetz, et al.
Neuroradiology
|
March 20, 2016
MRI and (1)H-MRS in adenosine kinase deficiency
C Staufner, H J Blom, C Dionisi-Vici, et al.
Page
of 4
Search research articles
Search
Showing results (11-20 of 31) with videos related to
Sort By:
Page
of 4
American Journal of Medical Genetics
|
May 3, 1996
Clinical and ultrastructural findings in three patients with geleophysic dysplasia
B F Pontz, H Stöss, F Henschke, et al.
American Journal of Medical Genetics
|
February 15, 1994
Achondrogenesis type IB (Fraccaro): study of collagen in the tissue and in chondrocytes cultured in agarose
P Freisinger, V Stanescu, B Jacob, et al.
American Journal of Medical Genetics
|
May 3, 1996
Type II collagenopathies: are there additional family members?
P Freisinger, J Bonaventure, H Stoess, et al.
Neuropediatrics
|
June 10, 2005
The eye-of-the-tiger sign is not a reliable disease marker for Hallervorden-Spatz syndrome
F A M Baumeister, D P Auer, K Hörtnagel, et al.
Acta Paediatrica (Oslo, Norway : 1992)
|
December 26, 2006
Identification of a novel compound heterozygote SCO2 mutation in cytochrome c oxidase deficient fatal infantile cardioencephalomyopathy
M Knuf, J Faber, R G Huth, et al.
Journal of Inherited Metabolic Disease
|
May 11, 1999
Carbohydrate-deficient glycoprotein syndrome type 2
H Engelhardt, M Staudt, A Hässler, et al.
Experimental Cell Research
|
May 1, 1994
Reexpression of cartilage-specific genes by dedifferentiated human articular chondrocytes cultured in alginate beads
J Bonaventure, N Kadhom, L Cohen-Solal, et al.
The Journal of Biological Chemistry
|
May 6, 1994
Mutation in the COL2A1 gene in a patient with hypochondrogenesis. Expression of mutated COL2A1 gene is accompanied by expression of genes for type I procollagen in chondrocytes
P Freisinger, L Ala-Kokko, D LeGuellec, et al.
Neuropediatrics
|
April 3, 2019
A De Novo Dominant Negative Mutation in DNM1L Causes Sudden Onset Status Epilepticus with Subsequent Epileptic Encephalopathy
S J Schmid, M Wagner, C Goetz, et al.
Neuroradiology
|
March 20, 2016
MRI and (1)H-MRS in adenosine kinase deficiency
C Staufner, H J Blom, C Dionisi-Vici, et al.
Page
of 4