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Clinical Genetics
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September 27, 2007
GFAP mutations and polymorphisms in 13 unrelated Italian patients affected by Alexander disease
F Caroli, R Biancheri, M Seri, et al.
Clinical Neuroradiology
|
September 29, 2021
MR Brain Screening in ADPKD Patients : To Screen or not to Screen?
I Capelli, M Zoli, M Righini, et al.
Epilepsy & Behavior : E&B
|
March 20, 2024
Detection of somatic and germline pathogenic variants in adult cohort of drug-resistant focal epilepsies
L Ferri, V Menghi, L Licchetta, et al.
Human Mutation
|
January 1, 1997
Frequency of RET mutations in long- and short-segment Hirschsprung disease
M Seri, L Yin, V Barone, et al.
Molecular Endocrinology (Baltimore, Md.)
|
August 26, 1998
Common mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients of different origins
H S Scott, M Heino, P Peterson, et al.
Neurogastroenterology and Motility
|
April 13, 2018
INPP4B overexpression and c-KIT downregulation in human achalasia
E Bonora, F Bianco, A Stanzani, et al.
Gene
|
January 30, 2002
Identification and characterization of a novel human brain-specific gene, homologous to S. scrofa tmp83.5, in the chromosome 10q24 critical region for temporal lobe epilepsy and spastic paraplegia
C Nobile, B Hinzmann, P Scannapieco, et al.
Neuromuscular Disorders : NMD
|
January 5, 2000
Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy
C Wallgren-Pettersson, K Pelin, P Hilpelä, et al.
Nature Genetics
|
September 6, 2000
Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium
M Seri, R Cusano, S Gangarossa, et al.
European Journal of Human Genetics : EJHG
|
November 5, 1998
A new candidate region for the positional cloning of the XLP gene
A Bolino, L Yin, M Seri, et al.
Page
of 8
Search research articles
Search
Showing results (61-70 of 73) with videos related to
Sort By:
Page
of 8
Clinical Genetics
|
September 27, 2007
GFAP mutations and polymorphisms in 13 unrelated Italian patients affected by Alexander disease
F Caroli, R Biancheri, M Seri, et al.
Clinical Neuroradiology
|
September 29, 2021
MR Brain Screening in ADPKD Patients : To Screen or not to Screen?
I Capelli, M Zoli, M Righini, et al.
Epilepsy & Behavior : E&B
|
March 20, 2024
Detection of somatic and germline pathogenic variants in adult cohort of drug-resistant focal epilepsies
L Ferri, V Menghi, L Licchetta, et al.
Human Mutation
|
January 1, 1997
Frequency of RET mutations in long- and short-segment Hirschsprung disease
M Seri, L Yin, V Barone, et al.
Molecular Endocrinology (Baltimore, Md.)
|
August 26, 1998
Common mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients of different origins
H S Scott, M Heino, P Peterson, et al.
Neurogastroenterology and Motility
|
April 13, 2018
INPP4B overexpression and c-KIT downregulation in human achalasia
E Bonora, F Bianco, A Stanzani, et al.
Gene
|
January 30, 2002
Identification and characterization of a novel human brain-specific gene, homologous to S. scrofa tmp83.5, in the chromosome 10q24 critical region for temporal lobe epilepsy and spastic paraplegia
C Nobile, B Hinzmann, P Scannapieco, et al.
Neuromuscular Disorders : NMD
|
January 5, 2000
Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy
C Wallgren-Pettersson, K Pelin, P Hilpelä, et al.
Nature Genetics
|
September 6, 2000
Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium
M Seri, R Cusano, S Gangarossa, et al.
European Journal of Human Genetics : EJHG
|
November 5, 1998
A new candidate region for the positional cloning of the XLP gene
A Bolino, L Yin, M Seri, et al.
Page
of 8