Transient QT Interval Prolongation in an Infant With Simpson–Golabi–Behmel Syndrome

Por Gertsch, Emily, Kirmani, Salman, Ackerman, Michael J., Babovic-Vuksanovic, Dusica
Publicado em 2010

Whole-Exome Sequencing in the Clinic: Lessons from Six Consecutive Cases from the Clinician's Perspective

Por Volk, Amber, Conboy, Erin, Wical, Beverly, Patterson, Marc, Kirmani, Salman
Publicado no Mol Syndromol (2015)

Relationship of Testosterone and Osteocalcin Levels During Growth

Por Kirmani, Salman, Atkinson, Elizabeth J., Melton, L. Joseph, Riggs, B. Lawrence, Amin, Shreyasee, Khosla, Sundeep
Publicado em 2011

Fragile X syndrome due to a missense mutation

Por Myrick, Leila K, Nakamoto-Kinoshita, Mika, Lindor, Noralane M, Kirmani, Salman, Cheng, Xiaodong, Warren, Stephen T
Publicado em 2014

Childhood Apraxia of Speech (CAS) in two patients with 16p11.2 microdeletion syndrome

Por Raca, Gordana, Baas, Becky S, Kirmani, Salman, Laffin, Jennifer J, Jackson, Craig A, Strand, Edythe A, Jakielski, Kathy J, Shriberg, Lawrence D
Publicado em 2013

A Distal Forearm Fracture in Childhood Is Associated With an Increased Risk for Future Fragility Fractures in Adult Men, but Not Women

Por Amin, Shreyasee, Melton, L Joseph, Achenbach, Sara J, Atkinson, Elizabeth J, Dekutoski, Mark B, Kirmani, Salman, Fischer, Philip R, Khosla, Sundeep
Publicado em 2013

Bone Strength and Structural Deficits in Children and Adolescents With a Distal Forearm Fracture Resulting From Mild Trauma

Por Farr, Joshua N, Amin, Shreyasee, Melton, L Joseph, Kirmani, Salman, McCready, Louise K, Atkinson, Elizabeth J, Müller, Ralph, Khosla, Sundeep
Publicado em 2014

Adult-onset manifestation of idiopathic T-cell lymphopenia due to a heterozygous RAG1 mutation

Por Abraham, Roshini S., Recher, Mike, Giliani, Silvia, Walter, Jolan E., Lee, Yu Nee, Frugoni, Francesco, Maddox, Daniel E., Kirmani, Salman, Notarangelo, Luigi D.
Publicado em 2012

Diminished Bone Strength Is Observed in Adult Women and Men Who Sustained a Mild Trauma Distal Forearm Fracture During Childhood

Por Farr, Joshua N, Khosla, Sundeep, Achenbach, Sara J, Atkinson, Elizabeth J, Kirmani, Salman, McCready, Louise K, Melton, L Joseph, Amin, Shreyasee
Publicado no J Bone Miner Res (2014)

Effects of Age on Bone mRNA Levels of Sclerostin and Other Genes Relevant to Bone Metabolism in Humans

Por Roforth, Matthew M., Fujita, Koji, McGregor, Ulrike I., Kirmani, Salman, McCready, Louise K., Peterson, James M., Drake, Matthew T., Monroe, David G., Khosla, Sundeep
Publicado em 2013

Effects of Estrogen on Bone mRNA Levels of Sclerostin and Other Genes Relevant to Bone Metabolism in Postmenopausal Women

Por Fujita, Koji, Roforth, Matthew M., Demaray, Susan, McGregor, Ulrike, Kirmani, Salman, McCready, Louise K., Peterson, James M., Drake, Matthew T., Monroe, David G., Khosla, Sundeep
Publicado em 2014

Bone Structure at the Distal Radius During Adolescent Growth

Por Kirmani, Salman, Christen, David, van Lenthe, G. Harry, Fischer, Philip R., Bouxsein, Mary L., McCready, Louise K., Melton, L. Joseph, Riggs, B. Lawrence, Amin, Shreyasee, Müller, Ralph, Khosla, Sundeep
Publicado em 2009

Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities

Por Hodge, Jennelle C., Mitchell, Elyse, Pillalamarri, Vamsee, Toler, Tomi L., Bartel, Frank, Kearney, Hutton M., Zou, Ying S., Tan, Wen-Hann, Hanscom, Carrie, Kirmani, Salman, Hanson, Rae R., Skinner, Steven A., Rogers, Curtis, Everman, David B., Boyd, Ellen, Mullegama, Sureni V., Keelean-Fuller, Debra, Powell, Cynthia M., Elsea, Sarah H., Morton, Cynthia C., Gusella, James F., DuPont, Barbara, Chaubey, Alka, Lin, Angela E., Talkowski, Michael E.
Publicado no Mol Psychiatry (2013)

Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia?

Por Morimoto Marie, Yu Zhongxin, Stenzel Peter, Clewing J, Najafian Behzad, Mayfield Christy, Hendson Glenda, Weinkauf Justin G, Gormley Andrew K, Parham David M, Ponniah Umakumaran, André Jean-Luc, Asakura Yumi, Basiratnia Mitra, Bogdanović Radovan, Bokenkamp Arend, Bonneau Dominique, Buck Anna, Charrow Joel, Cochat Pierre, Cordeiro Isabel, Deschenes Georges, Fenkçi M, Frange Pierre, Fründ Stefan, Fryssira Helen, Guillen-Navarro Encarna, Keller Kory, Kirmani Salman, Kobelka Christine, Lamfers Petra, Levtchenko Elena, Lewis David B, Massella Laura, McLeod D, Milford David V, Nobili François, Saraiva Jorge M, Semerci C, Shoemaker Lawrence, Stajić Nataša, Stein Anja, Taha Doris, Wand Dorothea, Zonana Jonathan, Lücke Thomas, Boerkoel Cornelius F
Publicado em 2012-09-01

Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia?

Por Morimoto, Marie, Yu, Zhongxin, Stenzel, Peter, Clewing, J Marietta, Najafian, Behzad, Mayfield, Christy, Hendson, Glenda, Weinkauf, Justin G, Gormley, Andrew K, Parham, David M, Ponniah, Umakumaran, André, Jean-Luc, Asakura, Yumi, Basiratnia, Mitra, Bogdanović, Radovan, Bokenkamp, Arend, Bonneau, Dominique, Buck, Anna, Charrow, Joel, Cochat, Pierre, Cordeiro, Isabel, Deschenes, Georges, Fenkçi, M Semin, Frange, Pierre, Fründ, Stefan, Fryssira, Helen, Guillen-Navarro, Encarna, Keller, Kory, Kirmani, Salman, Kobelka, Christine, Lamfers, Petra, Levtchenko, Elena, Lewis, David B, Massella, Laura, McLeod, D Ross, Milford, David V, Nobili, François, Saraiva, Jorge M, Semerci, C Nur, Shoemaker, Lawrence, Stajić, Nataša, Stein, Anja, Taha, Doris, Wand, Dorothea, Zonana, Jonathan, Lücke, Thomas, Boerkoel, Cornelius F
Publicado em 2012