Výsledky vyhledávání - Gunning, Adam

Using Structural Analysis In Silico to Assess the Impact of Missense Variants in MEN1 Autor Caswell, Richard C, Owens, Martina M, Gunning, Adam C, Ellard, Sian, Wright, Caroline F

Získat plný text Získat plný text Získat plný text

Assessing the clinical utility of protein structural analysis in genomic variant classification: experiences from a diagnostic laboratory Autor Caswell, Richard C., Gunning, Adam C., Owens, Martina M., Ellard, Sian, Wright, Caroline F.

Získat plný text Získat plný text Získat plný text

p.Val804Met, the Most Frequent Pathogenic Mutation in RET, Confers a Very Low Lifetime Risk of Medullary Thyroid Cancer Autor Loveday, Chey, Josephs, Katherine, Chubb, Daniel, Gunning, Adam, Izatt, Louise, Tischkowitz, Marc, Ellard, Sian, Turnbull, Clare

Získat plný text Získat plný text Získat plný text

Assessing performance of pathogenicity predictors using clinically relevant variant datasets Autor Gunning, Adam C, Fryer, Verity, Fasham, James, Crosby, Andrew H, Ellard, Sian, Baple, Emma L, Wright, Caroline F

Získat plný text Získat plný text Získat plný text

X Chromosome-Linked CNVs in Male Infertility: Discovery of Overall Duplication Load and Recurrent, Patient-Specific Gains with Potential Clinical Relevance Autor Chianese, Chiara, Gunning, Adam C., Giachini, Claudia, Daguin, Fabrice, Balercia, Giancarlo, Ars, Elisabet, Giacco, Deborah Lo, Ruiz-Castañé, Eduard, Forti, Gianni, Krausz, Csilla

Získat plný text Získat plný text Získat plný text

Consolidating biallelic SDHD variants as a cause of mitochondrial complex II deficiency Autor Lin, Siying, Fasham, James, Al-Hijawi, Fida’, Qutob, Nouar, Gunning, Adam, Leslie, Joseph S., McGavin, Lucy, Ubeyratna, Nishanka, Baker, Wisam, Zeid, Ramez, Turnpenny, Peter D., Crosby, Andrew H., Baple, Emma L., Khalaf-Nazzal, Reham

Získat plný text Získat plný text Získat plný text

Correction: Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance Autor Wai, Htoo A., Lord, Jenny, Lyon, Matthew, Gunning, Adam, Kelly, Hugh, Cibin, Penelope, Seaby, Eleanor G., Spiers-Fitzgerald, Kerry, Lye, Jed, Ellard, Sian, Thomas, N. Simon, Bunyan, David J., Douglas, Andrew G. L., Baralle, Diana

Získat plný text Získat plný text Získat plný text

Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance Autor Wai, Htoo A., Lord, Jenny, Lyon, Matthew, Gunning, Adam, Kelly, Hugh, Cibin, Penelope, Seaby, Eleanor G., Spiers-Fitzgerald, Kerry, Lye, Jed, Ellard, Sian, Thomas, N. Simon, Bunyan, David J., Douglas, Andrew G. L., Baralle, Diana

Získat plný text Získat plný text Získat plný text

Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes Autor Yap, Zheng Yie, Park, Yo Han, Wortmann, Saskia B., Gunning, Adam C., Ezer, Shlomit, Lee, Sukyeong, Duraine, Lita, Wilichowski, Ekkehard, Wilson, Kate, Mayr, Johannes A., Wagner, Matias, Li, Hong, Kini, Usha, Black, Emily Davis, Monaghan, Kristin G., Lupski, James R., Ellard, Sian, Westphal, Dominik S., Harel, Tamar, Yoon, Wan Hee

Získat plný text Získat plný text Získat plný text

Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism Autor Gunning, Adam C., Strucinska, Klaudia, Muñoz Oreja, Mikel, Parrish, Andrew, Caswell, Richard, Stals, Karen L., Durigon, Romina, Durlacher-Betzer, Karina, Cunningham, Mitchell H., Grochowski, Christopher M., Baptista, Julia, Tysoe, Carolyn, Baple, Emma, Lahiri, Nayana, Homfray, Tessa, Scurr, Ingrid, Armstrong, Catherine, Dean, John, Fernandez Pelayo, Uxoa, Jones, Aleck W.E., Taylor, Robert W., Misra, Vinod K., Yoon, Wan Hee, Wright, Caroline F., Lupski, James R., Spinazzola, Antonella, Harel, Tamar, Holt, Ian J., Ellard, Sian

Získat plný text Získat plný text Získat plný text

Diagnosis of lethal or prenatal‐onset autosomal recessive disorders by parental exome sequencing Autor Stals, Karen L., Wakeling, Matthew, Baptista, Júlia, Caswell, Richard, Parrish, Andrew, Rankin, Julia, Tysoe, Carolyn, Jones, Garan, Gunning, Adam C., Lango Allen, Hana, Bradley, Lisa, Brady, Angela F., Carley, Helena, Carmichael, Jenny, Castle, Bruce, Cilliers, Deirdre, Cox, Helen, Deshpande, Charu, Dixit, Abhijit, Eason, Jacqueline, Elmslie, Frances, Fry, Andrew E., Fryer, Alan, Holder, Muriel, Homfray, Tessa, Kivuva, Emma, McKay, Victoria, Newbury‐Ecob, Ruth, Parker, Michael, Savarirayan, Ravi, Searle, Claire, Shannon, Nora, Shears, Deborah, Smithson, Sarah, Thomas, Ellen, Turnpenny, Peter D., Varghese, Vinod, Vasudevan, Pradeep, Wakeling, Emma, Baple, Emma L., Ellard, Sian

Získat plný text Získat plný text Získat plný text

Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases Autor Murakami, Yoshiko, Nguyen, Thi Tuyet Mai, Baratang, Nissan, Raju, Praveen K., Knaus, Alexej, Ellard, Sian, Jones, Gabriela, Lace, Baiba, Rousseau, Justine, Ajeawung, Norbert Fonya, Kamei, Atsushi, Minase, Gaku, Akasaka, Manami, Araya, Nami, Koshimizu, Eriko, van den Ende, Jenneke, Erger, Florian, Altmüller, Janine, Krumina, Zita, Strautmanis, Jurgis, Inashkina, Inna, Stavusis, Janis, El-Gharbawy, Areeg, Sebastian, Jessica, Puri, Ratna Dua, Kulshrestha, Samarth, Verma, Ishwar C., Maier, Esther M., Haack, Tobias B., Israni, Anil, Baptista, Julia, Gunning, Adam, Rosenfeld, Jill A., Liu, Pengfei, Joosten, Marieke, Rocha, María Eugenia, Hashem, Mais O., Aldhalaan, Hesham M., Alkuraya, Fowzan S., Miyatake, Satoko, Matsumoto, Naomichi, Krawitz, Peter M., Rossignol, Elsa, Kinoshita, Taroh, Campeau, Philippe M.

Získat plný text Získat plný text Získat plný text