S Girirajan : rechercher sur Z-Library

Elsea, Sarah H, Girirajan, Santhosh

Année:

2010

Langue:

english

Fichier:

PDF, 772 KB

english, 2010

Smith–Magenis syndrome

Journal:

European Journal of Human Genetics

Année:

2008

Langue:

english

Fichier:

PDF, 246 KB

english, 2008

The origins and impact of primate segmental duplications

Tomas Marques-Bonet, Santhosh Girirajan, Evan E. Eichler

Journal:

Trends in Genetics

Année:

2009

Langue:

english

Fichier:

PDF, 1.85 MB

english, 2009

Counting Chromosomes to Exons: Advances in Copy Number Detection

Aradhya, Swaroop, Cherry, Athena M., Girirajan, Santhosh

Journal:

Current Genetic Medicine Reports

Année:

2013

Langue:

english

Fichier:

PDF, 222 KB

english, 2013

A copy number variation morbidity map of developmental delay

Cooper, Gregory M, Coe, Bradley P, Girirajan, Santhosh, Rosenfeld, Jill A, Vu, Tiffany H, Baker, Carl, Williams, Charles, Stalker, Heather, Hamid, Rizwan, Hannig, Vickie, Abdel-Hamid, Hoda, Bader, Pat

Journal:

Srinivasan, R., Girirajan, K. S., Ganesan, V., Radhakrishnan, Vijayashree, Subba Rao, G. V.

Année:

2011

Langue:

english

Fichier:

PDF, 1.12 MB

english, 2011

through the superconducting transition

Journal:

Physical Review B

Année:

1988

Langue:

english

Fichier:

PDF, 216 KB

english, 1988

Array comparative genomic hybridisation of 52 subjects with a Smith-Magenis-like phenotype: identification of dosage sensitive loci also associated with schizophrenia, autism, and developmental delay

Williams, S. R., Girirajan, S., Tegay, D., Nowak, N., Hatchwell, E., Elsea, S. H.

Journal:

Journal of Medical Genetics

Année:

2010

Langue:

english

Fichier:

PDF, 364 KB

english, 2010

Missing heritability and where to find it

Santhosh Girirajan

Journal:

Genome Biology

Année:

2017

Langue:

english

Fichier:

PDF, 254 KB

english, 2017

RAI1 point mutations, CAG repeat variation, and SNP analysis in non-deletion Smith–Magenis syndrome

Weimin Bi, G. Mustafa Saifi, Santhosh Girirajan, Xin Shi, Barbara Szomju, Helen Firth, R. Ellen Magenis, Lorraine Potocki, Sarah H. Elsea, James R. Lupski

Journal:

American Journal of Medical Genetics Part A

Année:

2006

Langue:

english

Fichier:

PDF, 275 KB

english, 2006

Smith–Magenis syndrome and moyamoya disease in a patient with del(17)(p11.2p13.1)

Santhosh Girirajan, Roberto Mendoza-Londono, Christopher N. Vlangos, Lucie Dupuis, Norma J. Nowak, David J. Bunyan, Eli Hatchwell, Sarah H. Elsea

Journal:

American Journal of Medical Genetics Part A

Année:

2007

Langue:

english

Fichier:

PDF, 283 KB

english, 2007

Evidence for involvement of GNB1L in autism

Ying-Zhang Chen, Mark Matsushita, Santhosh Girirajan, Mark Lisowski, Elizabeth Sun, Youngmee Sul, Raphael Bernier, Annette Estes, Geraldine Dawson, Nancy Minshew, Gerard D. Shellenberg, Evan E. Eichle

Journal:

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Année:

2012

Langue:

english

Fichier:

PDF, 662 KB

english, 2012

Vibrational free energy, entropy, and temperature factors of DNA calculated by a helix lattice approach

K. S. Girirajan, L. Young, E. W. Prohofsky

Journal:

Biopolymers

Année:

1989

Langue:

english

Fichier:

PDF, 1.09 MB

english, 1989

Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features

Allen N. Lamb, Jill A. Rosenfeld, Nicholas J. Neill, Michael E. Talkowski, Ian Blumenthal, Santhosh Girirajan, Debra Keelean-Fuller, Zheng Fan, Jill Pouncey, Cathy Stevens, Loren Mackay-Loder, Deborah

Journal:

Human Mutation

Année:

2012

Langue:

english

Fichier:

PDF, 475 KB

english, 2012

The second and third order elastic constants of alkali metals

R. Srinivasan, K.S. Girirajan

Journal:

Journal of Physics and Chemistry of Solids

Année:

1973

Langue:

english

Fichier:

PDF, 635 KB

english, 1973

Brachydactyly A1: New relatives for old families?

Santhosh Girirajan, Sarah H. Elsea

Journal:

Journal of Genetics

Année:

2005

Langue:

english

Fichier:

PDF, 128 KB

english, 2005

Tom1l2hypomorphic mice exhibit increased incidence of infections and tumors and abnormal immunologic response

Santhosh Girirajan, Paula M. Hauck, Stephen Williams, Christopher N. Vlangos, Barbara B. Szomju, Sara Solaymani-Kohal, Philip D. Mosier, Kimber L. White, Kathleen McCoy, Sarah H. Elsea

Journal:

Mammalian Genome

Année:

2008

Langue:

english

Fichier:

PDF, 1.64 MB

english, 2008

Parental-age effects in Down syndrome

Santhosh Girirajan

Journal:

Journal of Genetics

Année:

2009

Langue:

english

Fichier:

PDF, 372 KB

english, 2009

Third order elastic constants of gold

R. Srinivasan, K.S. Girirajan

Journal:

Journal of Physics and Chemistry of Solids

Année:

1974

Langue:

english

Fichier:

PDF, 46 KB

english, 1974

Gender, genotype, and phenotype differences in Smith–Magenis syndrome: a meta-analysis of 105 cases

EA Edelman, S Girirajan, B Finucane, PI Patel, JR Lupski, ACM Smith, SH Elsea

Journal:

Année:

2007

Langue:

english

Fichier:

PDF, 284 KB

english, 2007

17p11.2p12 triplication and del(17)q11.2q12 in a severely affected child with dup(17)p11.2p12 syndrome

S Girirajan, SR Williams, JY Garbern, N Nowak, E Hatchwell, SH Elsea

Journal:

Année:

2007

Langue:

english

Fichier:

PDF, 433 KB

english, 2007

A functional network module for Smith–Magenis syndrome

S Girirajan, HT Truong, CL Blanchard, SH Elsea

Journal:

Année:

2009

Langue:

english

Fichier:

PDF, 443 KB

english, 2009

Eyebrow anomalies as a diagnostic sign of genomic disorders

M Silengo, E Belligni, C Molinatto, G Baldassare, E Biamino, N Chiesa, O Zuffardi, S Girirajan, EE Eichler, GB Ferrero

Journal:

European Journal of Human Genetics

Année:

2010

Langue:

english

Fichier:

PDF, 624 KB

english, 2010

How much is too much? Phenotypic consequences of Rai1 overexpression in mice

Girirajan, Santhosh, Patel, Nisha, Slager, Rebecca E, Tokarz, Mary E, Bucan, Maja, Wiley, Jenny L, Elsea, Sarah H

Journal:

Année:

2008

Langue:

english

Fichier:

PDF, 433 KB

english, 2008

A large and complex structural polymorphism at 16p12.1 underlies microdeletion disease risk

Antonacci, Francesca, Kidd, Jeffrey M, Marques-Bonet, Tomas, Teague, Brian, Ventura, Mario, Girirajan, Santhosh, Alkan, Can, Campbell, Catarina D, Vives, Laura, Malig, Maika

Journal:

James R. Priest, Santhosh Girirajan, Tiffany H. Vu, Aaron Olson, Evan E. Eichler, Michael A. Portman

Année:

2010

Langue:

english

Fichier:

PDF, 1.05 MB

english, 2010

Rare copy number variants in isolated sporadic and syndromic atrioventricular septal defects

Journal:

American Journal of Medical Genetics Part A

Année:

2012

Langue:

english

Fichier:

PDF, 183 KB

english, 2012

The genetic variability and commonality of neurodevelopmental disease

Bradley P. Coe, Santhosh Girirajan, Evan E. Eichler

Journal:

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Année:

2012

Langue:

english

Fichier:

PDF, 262 KB

english, 2012

Temperature variation of the Debye-Waller factors of metal and halide ions in CsCl and CsBr powders by X-ray diffraction. II. Debye-Waller factors of Cs+and Br−ions in CsBr from room temperature to 78.2°K

Journal:

Année:

1988

Langue:

english

Fichier:

PDF, 127 KB

english, 1988

Temperature variation of the Debye-Waller factors of metal and halide ions in CsCl and CsBr powders by X-ray diffraction. I. Debye-Waller factors of Cs+and Cl−ions in CsCl from room temperature to 90°K

Journal:

Année:

1988

Langue:

english

Fichier:

PDF, 269 KB

english, 1988

Precise lattice parameter measurements in CsCl-Br solid solutions between room temperature and 90°K by powder x-ray diffraction

Journal:

Année:

1987

Langue:

english

Fichier:

PDF, 301 KB

english, 1987

Lattice parameter and thermal expansion of CsCl and CsBr by x-ray powder diffraction. I. Thermal expansion of CsCl from room temperature to 90° K

Journal:

Année:

1986

Langue:

english

Fichier:

PDF, 244 KB

english, 1986

Lattice parameter and thermal expansion of CsCl and CsBr by x-ray powder diffraction. II. Thermal expansion of CsBr from room temperature to 78.2 °K

Journal:

R Srinivasan, K S Girirajan

Année:

1986

Langue:

english

Fichier:

PDF, 165 KB

english, 1986

Temperature variation of the Debye-Waller factors of Ba++and F−ions in BaF2powder by x-ray diffraction

Journal:

Année:

1982

Langue:

english

Fichier:

PDF, 557 KB

english, 1982

Temperature variation of the Debye-Waller factors of metal and halide ions in CsCl-Br solid solutions between room temperature and 90°K by powder X-ray diffraction

Journal:

The American Journal of Human Genetics

Année:

1988

Langue:

english

Fichier:

PDF, 453 KB

english, 1988

Population Analysis of Large Copy Number Variants and Hotspots of Human Genetic Disease

Andy Itsara, Gregory M. Cooper, Carl Baker, Santhosh Girirajan, Jun Li, Devin Absher, Ronald M. Krauss, Richard M. Myers, Paul M. Ridker, Daniel I. Chasman, Heather Mefford, Phyllis Ying, Deborah A. N

Journal:

Année:

2009

Langue:

english

Fichier:

PDF, 993 KB

english, 2009

Population Analysis of Large Copy Number Variants and Hotspots of Human Genetic Disease

Andy Itsara, Gregory M. Cooper, Carl Baker, Santhosh Girirajan, Jun Li, Devin Absher, Ronald M. Krauss, Richard M. Myers, Paul M. Ridker, Daniel I. Chasman, Heather C. Mefford, Phyllis Ying, Deborah A

Journal:

The American Journal of Human Genetics

Année:

2009

Langue:

english

Fichier:

PDF, 57 KB

english, 2009

De Novo Pathogenic SCN8A Mutation Identified by Whole-Genome Sequencing of a Family Quartet Affected by Infantile Epileptic Encephalopathy and SUDEP

Krishna R. Veeramah, Janelle E. O'Brien, Miriam H. Meisler, Xiaoyang Cheng, Sulayman D. Dib-Hajj, Stephen G. Waxman, Dinesh Talwar, Santhosh Girirajan, Evan E. Eichler, Linda L. Restifo, Robert P. Eri

Journal:

The American Journal of Human Genetics

Année:

2012

Langue:

english

Fichier:

PDF, 458 KB

english, 2012

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

O'Roak, Brian J, Deriziotis, Pelagia, Lee, Choli, Vives, Laura, Schwartz, Jerrod J, Girirajan, Santhosh, Karakoc, Emre, MacKenzie, Alexandra P, Ng, Sarah B, Baker, Carl

Journal:

Santhosh Girirajan, Sarah H. Elsea

Année:

2012

Langue:

english

Fichier:

PDF, 76 KB

english, 2012

Distorted Mendelian transmission as a function of genetic background in Rai1-haploinsufficient mice

Journal:

European Journal of Medical Genetics

Année:

2009

Langue:

english

Fichier:

PDF, 183 KB

english, 2009

De Novo CNVs in Bipolar Disorder: Recurrent Themes or New Directions?

Santhosh Girirajan, Evan E. Eichler

Journal:

Neuron

Année:

2011

Langue:

english

Fichier:

PDF, 118 KB

english, 2011

A genetic model for neurodevelopmental disease

Bradley P Coe, Santhosh Girirajan, Evan E Eichler

Journal:

Current Opinion in Neurobiology

Année:

2012

Langue:

english

Fichier:

PDF, 859 KB

english, 2012

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

O'Roak, Brian J, Deriziotis, Pelagia, Lee, Choli, Vives, Laura, Schwartz, Jerrod J, Girirajan, Santhosh, Karakoc, Emre, MacKenzie, Alexandra P, Ng, Sarah B, Baker, Carl, Rieder, Mark J, Nickerson, Deb

Journal: