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Human Molecular Genetics
|
August 1, 1994
Linkage of 'pure' autosomal recessive familial spastic paraplegia to chromosome 8 markers and evidence of genetic locus heterogeneity
A Hentati, M A Pericak-Vance, W Y Hung, et al.
International Journal of Dermatology
|
August 1, 1991
Scalp mycetomas in Saudi Arabia
P V Venugopal, T V Venugopal, W N Laing, et al.
European Journal of Human Genetics : EJHG
|
July 1, 1997
Refined localisation of the genes for nebulin and titin on chromosome 2q allows the assignment of nebulin as a candidate gene for autosomal recessive nemaline myopathy
K Pelin, M Ridanpää, K Donner, et al.
International Journal of Cardiology
|
January 11, 2024
Clinical and cardiovascular magnetic resonance profile of cardiomyopathy patients from South Africa: Pilot of the IMHOTEP study
S M Kraus, P Samuels, S Jermy, et al.
Neuromuscular Disorders : NMD
|
December 7, 2002
The spectrum of pathology in central core disease
C A Sewry, C Müller, M Davis, et al.
Muscle & Nerve
|
December 19, 2025
Relationships Between Nerve Ultrasound Findings and Clinical, Genetic, Laboratory and Electrophysiological Findings in Patients With Chronic Idiopathic Axonal Polyneuropathy
L Pelosi, A Garvey, I Z Melville, et al.
Neuromuscular Disorders : NMD
|
October 19, 2010
Congenital fibre type disproportion associated with mutations in the tropomyosin 3 (TPM3) gene mimicking congenital myasthenia
P Munot, D Lashley, H Jungbluth, et al.
Brain : a Journal of Neurology
|
June 14, 2003
A locus on chromosome 15q for a dominantly inherited nemaline myopathy with core-like lesions
I M P Gommans, M Davis, K Saar, et al.
Nature Genetics
|
April 28, 2001
Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia
P Nürnberg, H Thiele, D Chandler, et al.
Neuromuscular Disorders : NMD
|
September 1, 2018
A novel MYH7 founder mutation causing Laing distal myopathy in Southern Spain
P Carbonell-Corvillo, E Tristán-Clavijo, M Cabrera-Serrano, et al.
Page
of 5
Search research articles
Search
Showing results (31-40 of 41) with videos related to
Sort By:
Page
of 5
Human Molecular Genetics
|
August 1, 1994
Linkage of 'pure' autosomal recessive familial spastic paraplegia to chromosome 8 markers and evidence of genetic locus heterogeneity
A Hentati, M A Pericak-Vance, W Y Hung, et al.
International Journal of Dermatology
|
August 1, 1991
Scalp mycetomas in Saudi Arabia
P V Venugopal, T V Venugopal, W N Laing, et al.
European Journal of Human Genetics : EJHG
|
July 1, 1997
Refined localisation of the genes for nebulin and titin on chromosome 2q allows the assignment of nebulin as a candidate gene for autosomal recessive nemaline myopathy
K Pelin, M Ridanpää, K Donner, et al.
International Journal of Cardiology
|
January 11, 2024
Clinical and cardiovascular magnetic resonance profile of cardiomyopathy patients from South Africa: Pilot of the IMHOTEP study
S M Kraus, P Samuels, S Jermy, et al.
Neuromuscular Disorders : NMD
|
December 7, 2002
The spectrum of pathology in central core disease
C A Sewry, C Müller, M Davis, et al.
Muscle & Nerve
|
December 19, 2025
Relationships Between Nerve Ultrasound Findings and Clinical, Genetic, Laboratory and Electrophysiological Findings in Patients With Chronic Idiopathic Axonal Polyneuropathy
L Pelosi, A Garvey, I Z Melville, et al.
Neuromuscular Disorders : NMD
|
October 19, 2010
Congenital fibre type disproportion associated with mutations in the tropomyosin 3 (TPM3) gene mimicking congenital myasthenia
P Munot, D Lashley, H Jungbluth, et al.
Brain : a Journal of Neurology
|
June 14, 2003
A locus on chromosome 15q for a dominantly inherited nemaline myopathy with core-like lesions
I M P Gommans, M Davis, K Saar, et al.
Nature Genetics
|
April 28, 2001
Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia
P Nürnberg, H Thiele, D Chandler, et al.
Neuromuscular Disorders : NMD
|
September 1, 2018
A novel MYH7 founder mutation causing Laing distal myopathy in Southern Spain
P Carbonell-Corvillo, E Tristán-Clavijo, M Cabrera-Serrano, et al.
Page
of 5