P. Rehal

发表

Investigation of the Birt–Hogg–Dubé tumour suppressor gene (FLCN) in familial and sporadic colorectal cancer

I. Tomlinson, Lynn Martin, M. Nahorski, 2010, Journal of Medical Genetics.

A new locus‐specific database (LSDB) for mutations in the folliculin (FLCN) gene

S. Richard, M. Nahorski, E. Maher, 2010, Human mutation.

CHRNG genotype–phenotype correlations in the multiple pterygium syndromes

R. Touraine, S. Holder, J. Fryns, 2011, Journal of Medical Genetics.

TMP3-NTRK1 rearranged uterine sarcoma: A case report

P. Tanière, P. Rehal, R. Ganesan, 2020, Case reports in women's health.

Clinical correlation and molecular evaluation confirm that the MLH1 p.Arg182Gly (c.544A>G) mutation is pathogenic and causes Lynch syndrome

D. Hughes, S. Hodgson, P. Daly, 2012, Familial Cancer.

Multiplex ligation-dependent probe amplification (MLPA) analysis is an effective tool for the detection of novel intragenic PLA2G6 mutations: implications for molecular diagnosis.

M. Kurian, A. Brady, E. Maher, 2010, Molecular genetics and metabolism.

The Cancer Research UK Stratified Medicine Programme as a model for delivering personalised cancer care

R. Butler, M. Cerone, G. Middleton, 2023, British Journal of Cancer.

Diffuse Cystic Lung Disease of Unexplained Cause With Coexistent Small Airway Disease: A Possible Causal Relationship?

A. Nicholson, D. Hansell, M. Polkey, 2012, The American journal of surgical pathology.

Diffuse Cystic Lung Disease of Unexplained Cause With Coexistent Small Airway Disease: A Possible Causal Relationship?

A. Nicholson, D. Hansell, M. Polkey, 2012, The American journal of surgical pathology.

Investigation of the Birt–Hogg–Dubé tumour suppressor gene (FLCN) in familial and sporadic colorectal cancer

I. Tomlinson, Lynn Martin, M. Nahorski, 2010, Journal of Medical Genetics.

A breast cancer patient of Scottish descent with germ-line mutations in BRCA1 and BRCA2.

S. Narod, A. Liede, J. Abrahamson, 1998, American journal of human genetics.