A case of prolidase deficiency in a male patient
Haller, Courtney N., George‐Abraham, Jaya K., Peterson, Rosemary G., Diaz, Lucia Z.
Published in Pediatric dermatology (01.01.2022)
Published in Pediatric dermatology (01.01.2022)
Get full text
Journal Article
Molecular characterization and reclassification of a 1.18 Mbp DMD duplication following positive carrier screening for Duchenne/Becker muscular dystrophy
Zepeda‐Mendoza, Cinthya J., Bontrager, Jordan E., Fisher, Camille F., McDonald, Amber, George‐Abraham, Jaya K., Hasadsri, Linda
Published in Clinical case reports (01.07.2022)
Published in Clinical case reports (01.07.2022)
Get full text
Journal Article
Fractures in Children With Neurofibromatosis Type 1 From Two NF Clinics
George-Abraham, Jaya K., Martin, Lisa J., Kalkwarf, Heidi J., Rieley, Margaret B., Stevenson, David A., Viskochil, David H., Hopkin, Robert J., Stevens, Austin M., Hanson, Heather, Schorry, Elizabeth K.
Published in American journal of medical genetics. Part A (01.05.2013)
Published in American journal of medical genetics. Part A (01.05.2013)
Get full text
Journal Article
Tetrasomy 15q25.2 → qter identified with SNP microarray in a patient with multiple anomalies including complex cardiovascular malformation
George‐Abraham, Jaya K., Zimmerman, Sarah L., Hinton, Robert B., Marino, Bradley S., Witte, David P., Hopkin, Robert J.
Published in American journal of medical genetics. Part A (01.08.2012)
Published in American journal of medical genetics. Part A (01.08.2012)
Get full text
Journal Article
Molecular and clinical analyses of 16q24.1 duplications involving FOXF1 identify an evolutionarily unstable large minisatellite
Dharmadhikari, Avinash V, Gambin, Tomasz, Szafranski, Przemyslaw, Cao, Wenjian, Probst, Frank J, Jin, Weihong, Fang, Ping, Gogolewski, Krzysztof, Gambin, Anna, George-Abraham, Jaya K, Golla, Sailaja, Boidein, Francoise, Duban-Bedu, Benedicte, Delobel, Bruno, Andrieux, Joris, Becker, Kerstin, Holinski-Feder, Elke, Cheung, Sau Wai, Stankiewicz, Pawel
Published in BMC genetics (04.12.2014)
Published in BMC genetics (04.12.2014)
Get full text
Journal Article
Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848
Koczkowska, Magdalena, Chen, Yunjia, Callens, Tom, Gomes, Alicia, Sharp, Angela, Johnson, Sherrell, Hsiao, Meng-Chang, Chen, Zhenbin, Balasubramanian, Meena, Barnett, Christopher P., Becker, Troy A., Ben-Shachar, Shay, Bertola, Debora R., Blakeley, Jaishri O., Burkitt-Wright, Emma M.M., Callaway, Alison, Crenshaw, Melissa, Cunha, Karin S., Cunningham, Mitch, D’Agostino, Maria D., Dahan, Karin, De Luca, Alessandro, Destrée, Anne, Dhamija, Radhika, Eoli, Marica, Evans, D. Gareth R., Galvin-Parton, Patricia, George-Abraham, Jaya K., Gripp, Karen W., Guevara-Campos, Jose, Hanchard, Neil A., Hernández-Chico, Concepcion, Immken, LaDonna, Janssens, Sandra, Jones, Kristi J., Keena, Beth A., Kochhar, Aaina, Liebelt, Jan, Martir-Negron, Arelis, Mahoney, Maurice J., Maystadt, Isabelle, McDougall, Carey, McEntagart, Meriel, Mendelsohn, Nancy, Miller, David T., Mortier, Geert, Morton, Jenny, Pappas, John, Plotkin, Scott R., Pond, Dinel, Rosenbaum, Kenneth, Rubin, Karol, Russell, Laura, Rutledge, Lane S., Saletti, Veronica, Schonberg, Rhonda, Schreiber, Allison, Seidel, Meredith, Siqveland, Elizabeth, Stockton, David W., Trevisson, Eva, Ullrich, Nicole J., Upadhyaya, Meena, van Minkelen, Rick, Verhelst, Helene, Wallace, Margaret R., Yap, Yoon-Sim, Zackai, Elaine, Zonana, Jonathan, Zurcher, Vickie, Claes, Kathleen, Martin, Yolanda, Korf, Bruce R., Legius, Eric, Messiaen, Ludwine M.
Published in American journal of human genetics (04.01.2018)
Published in American journal of human genetics (04.01.2018)
Get full text
Journal Article
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides-Baraitser syndrome
Cappuccio, Gerarda, Sayou, Camille, Tanno, Pauline Le, Tisserant, Emilie, Bruel, Ange-Line, Kennani, Sara El, Sá, Joaquim, Low, Karen J, Dias, Cristina, Havlovicová, Markéta, Hančárová, Miroslava, Eichler, Evan E, Devillard, Françoise, Moutton, Sébastien, Van-Gils, Julien, Dubourg, Christèle, Odent, Sylvie, Gerard, Bénédicte, Piton, Amélie, Yamamoto, Toshiyuki, Okamoto, Nobuhiko, Firth, Helen, Metcalfe, Kay, Moh, Anna, Chapman, Kimberly A, Aref-Eshghi, Erfan, Kerkhof, Jennifer, Torella, Annalaura, Nigro, Vincenzo, Perrin, Laurence, Piard, Juliette, Le Guyader, Gwenaël, Jouan, Thibaud, Thauvin-Robinet, Christel, Duffourd, Yannis, George-Abraham, Jaya K, Buchanan, Catherine A, Williams, Denise, Kini, Usha, Wilson, Kate, Sousa, Sérgio B, Hennekam, Raoul C M, Sadikovic, Bekim, Thevenon, Julien, Govin, Jérôme, Vitobello, Antonio, Brunetti-Pierri, Nicola
Published in Genetics in medicine (01.11.2020)
Published in Genetics in medicine (01.11.2020)
Get full text
Journal Article
Alternative polyadenylation alters protein dosage by switching between intronic and 3′UTR sites
de Prisco, Nicola, Ford, Caitlin, Elrod, Nathan D., Lee, Winston, Tang, Lauren C., Huang, Kai-Lieh, Lin, Ai, Ji, Ping, Jonnakuti, Venkata S., Boyle, Lia, Cabaj, Maximilian, Botta, Salvatore, Õunap, Katrin, Reinson, Karit, Wojcik, Monica H., Rosenfeld, Jill A., Bi, Weimin, Tveten, Kristian, Prescott, Trine, Gerstner, Thorsten, Schroeder, Audrey, Fong, Chin-To, George-Abraham, Jaya K., Buchanan, Catherine A., Hanson-Khan, Andrea, Bernstein, Jonathan A., Nella, Aikaterini A., Chung, Wendy K., Brandt, Vicky, Jovanovic, Marko, Targoff, Kimara L., Yalamanchili, Hari Krishna, Wagner, Eric J., Gennarino, Vincenzo A.
Published in Science advances (17.02.2023)
Published in Science advances (17.02.2023)
Get full text
Journal Article
Alternative polyadenylation alters protein dosage by switching between intronic and 3'UTR sites
de Prisco, Nicola, Ford, Caitlin, Elrod, Nathan D, Lee, Winston, Tang, Lauren C, Huang, Kai-Lieh, Lin, Ai, Ji, Ping, Jonnakuti, Venkata S, Boyle, Lia, Cabaj, Maximilian, Botta, Salvatore, Õunap, Katrin, Reinson, Karit, Wojcik, Monica H, Rosenfeld, Jill A, Bi, Weimin, Tveten, Kristian, Prescott, Trine, Gerstner, Thorsten, Schroeder, Audrey, Fong, Chin-To, George-Abraham, Jaya K, Buchanan, Catherine A, Hanson-Khan, Andrea, Bernstein, Jonathan A, Nella, Aikaterini A, Chung, Wendy K, Brandt, Vicky, Jovanovic, Marko, Targoff, Kimara L, Yalamanchili, Hari Krishna, Wagner, Eric J, Gennarino, Vincenzo A
Published in Science advances (17.02.2023)
Published in Science advances (17.02.2023)
Get full text
Journal Article
Perceived Rate Of Returns To Education: A UAE Perspective
Abraham, Jaya, Iyanna, Shilpa, Sarr, Makhtar
Published in The international business & economics research journal (29.07.2013)
Published in The international business & economics research journal (29.07.2013)
Get full text
Journal Article
치환된 융합 피리미디논 화합물
RAI DEEPAK, MISHRA VIVEK, JAMADARKHANA PRASHANT, ABRAHAM JAYA, DUTT CHAITANYA, RODE MILIND, SRIVASTAVA SANJAY, JOSHI DEEPA, GUPTA RAMESH CHANDRA, TULI DAVINDER, DESHPANDE SHAILESH
Year of Publication 20.12.2018
Get full text
Year of Publication 20.12.2018
Patent
Tetrasomy 15q25.2 arrow right qter identified with SNP microarray in a patient with multiple anomalies including complex cardiovascular malformation
George-Abraham, Jaya K, Zimmerman, Sarah L, Hinton, Robert B, Marino, Bradley S, Witte, David P, Hopkin, Robert J
Published in American journal of medical genetics. Part A (01.08.2012)
Published in American journal of medical genetics. Part A (01.08.2012)
Get full text
Journal Article
새로운 피리디늄 화합물
LATAD SACHIN, MISHRA VIVEK, ABRAHAM JAYA, DUTT CHAITANYA, GUPTA RAMESHCHANDRA, KOTECHA JIGNESH, KESARWANI AMIT, PATEL MANISH, MATHUR ANOOP, CHAUDHARI ANITA, DESHPANDE SHAILESH, ZAMBAD SHITAL KUMAR
Year of Publication 06.12.2017
Get full text
Year of Publication 06.12.2017
Patent
약학적 제형
LATAD SACHIN, MISHRA VIVEK, ABRAHAM JAYA, DUTT CHAITANYA, KOTECHA JIGNESH, KESARWANI AMIT, MATHUR ANOOP, PATEL MANISH, GUPTA RAMESH CHANDRA, CHAUDHARI ANITA, DESHPANDE SHAILESH, ZAMBAD SHITAL KUMAR
Year of Publication 06.12.2017
Get full text
Year of Publication 06.12.2017
Patent