Journal of Medical Genetics

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Long-range regulation at the SOX9 locus in development and disease
Journal of Medical Genetics - Tập 46 Số 10 - Trang 649-656 - 2009
Christopher T. Gordon, Tiong Yang Tan, Sabina Benko, David Fitzpatrick, Stanislas Lyonnet, Peter G. Farlie
Congenital disorders of glycosylation IIa cause growth retardation, mental retardation, and facial dysmorphism
Journal of Medical Genetics - Tập 37 Số 11 - Trang 875-877 - 2000
Valérie Cormier‐Daire
Clinical and molecular features of three patients with congenital disorders of glycosylation type Ih (CDG-Ih) (ALG8 deficiency)
Journal of Medical Genetics - Tập 41 Số 7 - Trang 550-556 - 2004
E Schollen
George Huntington: the man behind the eponym.
Journal of Medical Genetics - Tập 30 Số 5 - Trang 406-409 - 1993
Nadja Durbach, Michael R. Hayden
Global microarray profiling identifiedhsa_circ_0064428as a potential immune-associated prognosis biomarker for hepatocellular carcinoma
Journal of Medical Genetics - Tập 56 Số 1 - Trang 32-38 - 2019
Qiaoyou Weng, Minjiang Chen, Maoquan Li, Yongfa Zheng, Guoliang Shao, Weijun Fan, Ximing Xu, Jiansong Ji
BackgroundIncreasing evidence has shown that circular RNAs (circRNAs) are involved tumourigenesis and metastasis of hepatocellular carcinoma (HCC); however, progression about its function in HCC is relatively slow. Here, we aimed to investigate whether plasma circRNAs could reflect the tumour-infiltrating lymphocytes (TILs) in HCC tumour tissues and serve...... hiện toàn bộ
Splicing in action: assessing disease causing sequence changes
Journal of Medical Genetics - Tập 42 Số 10 - Trang 737-748 - 2005
Diana Baralle
Hereditary pancreatic hypoplasia, diabetes mellitus, and congenital heart disease: a new syndrome?
Journal of Medical Genetics - Tập 31 Số 4 - Trang 331-333 - 1994
Tohru Yorifuji, Martin E. Matsumura, Tomoko Okuno, Koïchi Shimizu, Takahiro Sonomura, Junko Muroi, Chiaki Kuno, Y Takahashi
Meta-analysis of vascular endothelial growth factor variations in amyotrophic lateral sclerosis: increased susceptibility in male carriers of the -2578AA genotype
Journal of Medical Genetics - Tập 46 Số 12 - Trang 840-846 - 2009
Diether Lambrechts, Koen Poesen, Rubén Fernández‐Santiago, Ammar Al‐Chalabi, Dongsheng Fan, Paul W.J. van Vught, Seema A. Khan, Stefan L. Marklund, Alice Brockington, Ingrid van Marion, Johanna Anneser, Christopher E. Shaw, Albert C. Ludolph, Nigel P. Leigh, Giacomo P. Comi, Thomas Gasser, Pamela J. Shaw, Karen Morrison, P. M. Andersen, Leonard H. van den Berg, Vincent Thijs, Teepu Siddique, Peter Carmeliet
Hirschsprung disease, associated syndromes and genetics: a review
Journal of Medical Genetics - Tập 45 Số 1 - Trang 1-14
Jeanne Amiel, Eileen Sproat-Emison, Maria‐Mercè Garcia‐Barceló, Francesca Lantieri, Grzegorz Burzynski, Salud Borrego, Anna Pelet, Stacey Arnold, Xiaoping Miao, Paola Griseri, A S Brooks, Guillermo Antiñolo, Loïc de Pontual, Mathieu Clément‐Ziza, Arnold Münnich, Carl Kashuk, Kristen M. West, Kenneth K. Wong, Stanislas Lyonnet, Aravinda Chakravarti, Paul KH Tam, Isabella Ceccherini, Robert M.W. Hofstra, Raquel M. Fernández
A novel locus for late onset amyotrophic lateral sclerosis/motor neurone disease variant at 20q13
Journal of Medical Genetics - Tập 41 Số 4 - Trang 315-320 - 2004
Agnes L. Nishimura
Tổng số: 140   
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