未登录 分享 收藏
分享 收藏
A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early-onset monogenic disorders in Indians 源自1455个临床和研究外显子组的变异数据集可有效地对印度人的早发性单基因疾病进行变异优先排序 Kausthubham, Neethukrishna; Shukla, Anju; Gupta, Neerja; Bhavani, Gandham S.; Kulshrestha, Samarth; Bhowmik, Aneek Das; Moirangthem, Amita; Bijarnia-Mahay, Sunita; Kabra, Madhulika; Puri, Ratna D.; Mandal, Kausik; Verma, Ishwar C.; Bielas, Stephanie L.; Phadke, Shubha R.; Dalal, Ashwin; Girisha, Katta M. 分享 收藏
Genetic analysis of familial hypercholesterolemia in Asian Indians: A single-center study Setia, Nitika; Movva, Sireesha; Balakrishnan, Prahlad; Biji, Ishpreet K.; Sawhney, Jitendra Pal Singh; Puri, Raman; Arora, Anjali; Puri, Ratna D.; Saxena, Renu; Mishra, Sanghamitra; Apte, Sanika; Kulshrestha, Samarth; Ramprasad, Vedam Lakshmi; Verma, Ishwar C. 分享 收藏
Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly 阐明原发性和继发性小头畸形的表型谱和遗传景观 Boonsawat, Paranchai; Joset, Pascal; Steindl, Katharina; Oneda, Beatrice; Gogoll, Laura; Azzarello-Burri, Silvia; Sheth, Frenny; Datar, Chaitanya; Verma, Ishwar C.; Puri, Ratna Dua; Zollino, Marcella; Bachmann-Gagescu, Ruxandra; Niedrist, Dunja; Papik, Michael; Figueiro-Silva, Joana; Masood, Rahim; Zweier, Markus; Kraemer, Dennis; Lincoln, Sharyn; Rodan, Lance; Passemard, Sandrine; Drunat, Severine; Verloes, Alain; Horn, Anselm H. C.; Sticht, Heinrich; Steinfeld, Robert; Plecko, Barbara; Latal, Beatrice; Jenni, Oskar; Asadollahi, Reza; Rauch, Anita 分享 收藏
Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases Murakami, Yoshiko; Thi Tuyet Mai Nguyen; 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; Altmueller, 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, Maria Eugenia; Hashem, Mais O.; Aldhalaan, Hesham M.; Alkuraya, Fowzan S.; Miyatake, Satoko; Matsumoto, Naomichi; Krawitz, Peter M.; Rossignol, Elsa; Kinoshita, Taroh; Campeau, Philippe M. 分享 收藏
分享 收藏
Urea cycle disorders in India: clinical course, biochemical and genetic investigations, and prenatal testing Bijarnia-Mahay, Sunita; Haberle, Johannes; Jalan, Anil B.; Puri, Ratna Dua; Kohli, Sudha; Kudalkar, Ketki; Rufenacht, Veronique; Gupta, Deepti; Maurya, Deepshikha; Verma, Jyotsna; Shigematsu, Yosuke; Yamaguchi, Seiji; Saxena, Renu; Verma, Ishwar C. 分享 收藏
Sequencing of FIC1, BSEP and MDR3 in a large cohort of patients with cholestasis revealed a high number of different genetic variants Droege, Carola; Bonus, Michele; Baumann, Ulrich; Klindt, Caroline; Lainka, Elke; Kathemann, Simone; Brinkert, Florian; Grabhorn, Enke; Pfister, Eva-Doreen; Wenning, Daniel; Fichtner, Alexander; Gotthardt, Daniel N.; Weiss, Karl Heinz; McKiernan, Patrick; Puri, Ratna Dua; Verma, I. C.; Kluge, Stefanie; Gohlke, Holger; Schmitt, Lutz; Kubitz, Ralf; Haeussinger, Dieter; Keitel, Verena 分享 收藏
Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice De Tomasi, Lara; David, Pierre; Humbert, Camille; Silbermann, Flora; Arrondel, Christelle; Tores, Frederic; Fouquet, Stephane; Desgrange, Audrey; Niel, Olivier; Bole-Feysot, Christine; Nitschke, Patrick; Roume, Joelle; Cordier, Marie-Pierre; Pietrement, Christine; Isidor, Bertrand; Van Kien, Philippe Khau; Gonzales, Marie; Saint-Frison, Marie-Helene; Martinovic, Jelena; Novo, Robert; Piard, Juliette; Cabrol, Christelle; Verma, Ishwar C.; Puri, Ratna; Journel, Hubert; Aziza, Jacqueline; Gavard, Laurent; Said-Menthon, Marie-Helene; Heidet, Laurence; Saunier, Sophie; Jeanpierre, Cecile 分享 收藏
分享 收藏
High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation Rojnueangnit, Kitiwan; Xie, Jing; Gomes, Alicia; Sharp, Angela; Callens, Tom; Chen, Yunjia; Liu, Ying; Cochran, Meagan; Abbott, Mary-Alice; Atkin, Joan; Babovic-Vuksanovic, Dusica; Barnett, Christopher P.; Crenshaw, Melissa; Bartholomew, Dennis W.; Basel, Lina; Bellus, Gary; Ben-Shachar, Shay; Bialer, Martin G.; Bick, David; Blumberg, Bruce; Cortes, Fanny; David, Karen L.; Destree, Anne; Duat-Rodriguez, Anna; Earl, Dawn; Escobar, Luis; Eswara, Marthanda; Ezquieta, Begona; Frayling, Ian M.; Frydman, Moshe; Gardner, Kathy; Gripp, Karen W.; Hernandez-Chico, Concepcion; Heyrman, Kurt; Ibrahim, Jennifer; Janssens, Sandra; Keena, Beth A.; Llano-Rivas, Isabel; Leppig, Kathy; McDonald, Marie; Misra, Vinod K.; Mulbury, Jennifer; Narayanan, Vinodh; Orenstein, Naama; Galvin-Parton, Patricia; Pedro, Helio; Pivnick, Eniko K.; Powell, Cynthia M.; Randolph, Linda; Raskin, Salmo; Rosell, Jordi; Rubin, Karol; Seashore, Margretta; Schaaf, Christian P.; Scheuerle, Angela; Schultz, Meredith; Schorry, Elizabeth; Schnur, Rhonda; Siqveland, Elizabeth; Tkachuk, Amanda; Tonsgard, James; Upadhyaya, Meena; Verma, Ishwar C.; Wallace, Stephanie; Williams, Charles; Zackai, Elaine; Zonana, Jonathan; Lazaro, Conxi; Claes, Kathleen; Korf, Bruce; Martin, Yolanda; Legius, Eric; Messiaen, Ludwine 分享 收藏
CYP2C9, VKORC1, CYP4F2, ABCB1 and F5 variants: Influence on quality of long-term anticoagulation Nahar, Risha; Saxena, Renu; Deb, Roumi; Parakh, Rajiv; Shad, Sujay; Sethi, Prahlad K.; Takkar, Parul; Verma, Ishwar C. 分享 收藏
Splice, Insertion-Deletion and Nonsense Mutations that Perturb the Phenylalanine Hydroxylase Transcript Cause Phenylketonuria in India 干扰苯丙氨酸羟化酶转录物的剪接，插入缺失和无义突变在印度引起苯丙酮尿症 Bashyam, Murali D.; Chaudhary, Ajay K.; Kiran, Manjari; Nagarajaram, Hampapathalu A.; Devi, Radha Rama; Ranganath, Prajnya; Dalal, Ashwin; Bashyam, Leena; Gupta, Neerja; Kabra, Madhulika; Muranjan, Mamta; Puri, Ratna D.; Verma, Ishwar C.; Nampoothiri, Sheela; Kadandale, Jayarama S. 分享 收藏
GLRB is the third major gene of effect in hyperekplexia (vol 22, pg 927, 2013) Chung, Seo-Kyung; Bode, Anna; Cushion, Thomas D.; Thomas, Rhys H.; Hunt, Charlotte; Wood, Sian-Elin; Pickrell, William O.; Drew, Cheney J. G.; Yamashita, Sumimasa; Shiang, Rita; Leiz, Steffen; Longardt, Ann-Carolyn; Raile, Vera; Weschke, Bernhard; Puri, Ratna D.; Verma, Ishwar C.; Harvey, Robert J.; Ratnasinghe, Didi D.; Parker, Michael; Rittey, Chris; Masri, Amira; Lingappa, Lokesh; Howell, Owain W.; Vanbellinghen, Jean-Francois; Mullins, Jonathan G.; Lynch, Joseph W.; Rees, Mark I. 分享 收藏
分享 收藏
分享 收藏
A structured simple form for ordering genetic tests is needed to ensure coupling of clinical detail (phenotype) with DNA variants (genotype) to ensure utility in publication and databases Cotton, R. G. H.; Auerbach, A. D.; Brown, A. F.; Carrera, P.; Christodoulou, J.; Claustre, M.; Compton, J.; Cox, D. W.; De Baere, E.; den Dunnen, J. T.; Greenblatt, M.; Fujiwara, M.; Hilbert, P.; Jani, A.; Lehvaslaiho, H.; Nebert, D. W.; Verma, I.; Vihinen, M. 分享 收藏
SOX10 mutations in chronic intestinal pseudo-obstruction suggest a complex physiopathological mechanism Pingault, V; Girard, M; Bondurand, N; Dorkins, H; Van Maldergem, L; Mowat, D; Shimotake, T; Verma, I; Baumann, C; Goossens, M 分享 收藏
分享 收藏
.png){kind=icon}
未登录.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
