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Diabetes & Metabolism
|
October 29, 2008
Mitochondrial DNA A3243G mutation involved in familial diabetes, chronic intestinal pseudo-obstruction and recurrent pancreatitis
C Verny, P Amati-Bonneau, F Letournel, et al.
European Journal of Human Genetics : EJHG
|
May 1, 1997
A YAC contig spanning the blepharophimosis-ptosis-epicanthus inversus syndrome and propionic acidemia loci
M R Piemontese, E Memeo, M Carella, et al.
Molecular Genetics and Metabolism Reports
|
April 17, 2025
The recurrent p.Glu3Lys variant in <i>EHHADH</i> is responsible for Fanconi syndrome with early liver dysfunction and mitochondrial abnormalities
P Rollier, A Cospain, M Barth, et al.
Journal of Medical Genetics
|
September 3, 2004
OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract
P Reynier, P Amati-Bonneau, C Verny, et al.
Nature Genetics
|
February 15, 2001
The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome
L Crisponi, M Deiana, A Loi, et al.
Journal of Medical Genetics
|
July 14, 2009
MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations
N Le Meur, M Holder-Espinasse, S Jaillard, et al.
Journal of the Neurological Sciences
|
August 20, 2016
The wide POLG-related spectrum: An integrated view
M Béreau, M Anheim, A Echaniz-Laguna, et al.
Cell Death Discovery
|
June 9, 2016
Loss of function of <i>Ywhah</i> in mice induces deafness and cochlear outer hair cells' degeneration
L Buret, G Rebillard, E Brun, et al.
Brain : a Journal of Neurology
|
February 17, 2010
Multi-system neurological disease is common in patients with OPA1 mutations
P Yu-Wai-Man, P G Griffiths, G S Gorman, et al.
Page
of 8
Search research articles
Search
Showing results (71-80 of 79) with videos related to
Sort By:
Page
of 8
You have reached the last page of results.
This site can display upto 79 results.
Diabetes & Metabolism
|
October 29, 2008
Mitochondrial DNA A3243G mutation involved in familial diabetes, chronic intestinal pseudo-obstruction and recurrent pancreatitis
C Verny, P Amati-Bonneau, F Letournel, et al.
European Journal of Human Genetics : EJHG
|
May 1, 1997
A YAC contig spanning the blepharophimosis-ptosis-epicanthus inversus syndrome and propionic acidemia loci
M R Piemontese, E Memeo, M Carella, et al.
Molecular Genetics and Metabolism Reports
|
April 17, 2025
The recurrent p.Glu3Lys variant in <i>EHHADH</i> is responsible for Fanconi syndrome with early liver dysfunction and mitochondrial abnormalities
P Rollier, A Cospain, M Barth, et al.
Journal of Medical Genetics
|
September 3, 2004
OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract
P Reynier, P Amati-Bonneau, C Verny, et al.
Nature Genetics
|
February 15, 2001
The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome
L Crisponi, M Deiana, A Loi, et al.
Journal of Medical Genetics
|
July 14, 2009
MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations
N Le Meur, M Holder-Espinasse, S Jaillard, et al.
Journal of the Neurological Sciences
|
August 20, 2016
The wide POLG-related spectrum: An integrated view
M Béreau, M Anheim, A Echaniz-Laguna, et al.
Cell Death Discovery
|
June 9, 2016
Loss of function of <i>Ywhah</i> in mice induces deafness and cochlear outer hair cells' degeneration
L Buret, G Rebillard, E Brun, et al.
Brain : a Journal of Neurology
|
February 17, 2010
Multi-system neurological disease is common in patients with OPA1 mutations
P Yu-Wai-Man, P G Griffiths, G S Gorman, et al.
Page
of 8