Výsledky vyhledávání - Shaikh, Tamim H.

Copy Number Variation Disorders Autor Shaikh, Tamim H.

Získat plný text Získat plný text Získat plný text

Clinical impact of copy number variation analysis using high-resolution microarray technologies: advantages, limitations and concerns Autor Coughlin, Curtis R, Scharer, Gunter H, Shaikh, Tamim H

Získat plný text Získat plný text Získat plný text

Cis-acting influences on Alu RNA levels Autor Alemán, Claudina, Roy-Engel, Astrid M., Shaikh, Tamim H., Deininger, Prescott L.

Získat plný text Získat plný text

Clustered 11q23 and 22q11 Breakpoints and 3:1 Meiotic Malsegregation in Multiple Unrelated t(11;22) Families Autor Shaikh, Tamim H., Budarf, Marcia L., Celle, Livija, Zackai, Elaine H., Emanuel, Beverly S.

Získat plný text Získat plný text

A palindrome-mediated mechanism distinguishes translocations involving LCR-B of chromosome 22q11.2 Autor Gotter, Anthony L., Shaikh, Tamim H., Budarf, Marcia L., Rhodes, C. Harker, Emanuel, Beverly S.

Získat plný text Získat plný text Získat plný text

Genes and biological processes commonly disrupted in rare and heterogeneous developmental delay syndromes Autor Shaikh, Tamim H., Haldeman-Englert, Chad, Geiger, Elizabeth A., Ponting, Chris P., Webber, Caleb

Získat plný text Získat plný text Získat plný text

An Individual with Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome (BPES) and Additional Features Expands the Phenotype Associated with Mutations in KAT6B Autor Yu, Hung-Chun, Geiger, Elizabeth A., Medne, Livija, Zackai, Elaine H., Shaikh, Tamim H.

Získat plný text Získat plný text Získat plný text

Abnormal expression of GABA(A) receptor subunits and hypomotility upon loss of gabra1 in zebrafish Autor Reyes-Nava, Nayeli G., Yu, Hung-Chun, Coughlin, Curtis R., Shaikh, Tamim H., Quintana, Anita M.

Získat plný text Získat plný text Získat plný text

22q11.2 Low Copy Repeats Expanded in the Human Lineage Autor Vervoort, Lisanne, Dierckxsens, Nicolas, Pereboom, Zjef, Capozzi, Oronzo, Rocchi, Mariano, Shaikh, Tamim H., Vermeesch, Joris R.

Získat plný text Získat plný text Získat plný text

Palindromic AT-Rich Repeat in the NF1 Gene Is Hypervariable in Humans and Evolutionarily Conserved in Primates Autor Inagaki, Hidehito, Ohye, Tamae, Kogo, Hiroshi, Yamada, Kouji, Kowa, Hiroe, Shaikh, Tamim H., Emanuel, Beverly S., Kurahashi, Hiroki

Získat plný text Získat plný text Získat plný text

Tightly Clustered 11q23 and 22q11 Breakpoints Permit PCR-Based Detection of the Recurrent Constitutional t(11;22) Autor Kurahashi, Hiroki, Shaikh, Tamim H., Zackai, Elaine H., Celle, Livija, Driscoll, Deborah A., Budarf, Marcia L., Emanuel, Beverly S.

Získat plný text Získat plný text

Microdeletions and Microduplications in Patients with Congenital Heart Disease and Multiple Congenital Anomalies Autor Goldmuntz, Elizabeth, Paluru, Prasuna, Glessner, Joseph, Hakonarson, Hakon, Biegel, Jaclyn A., White, Peter S., Gai, Xiaowu, Shaikh, Tamim H.

Získat plný text Získat plný text Získat plný text

Chromosomal instability mediated by non-B DNA: Cruciform conformation and not DNA sequence is responsible for recurrent translocation in humans Autor Inagaki, Hidehito, Ohye, Tamae, Kogo, Hiroshi, Kato, Takema, Bolor, Hasbaira, Taniguchi, Mariko, Shaikh, Tamim H., Emanuel, Beverly S., Kurahashi, Hiroki

Získat plný text Získat plný text Získat plný text

Evaluating Familial Essential Tremor with Novel Genetic Approaches: Is it a Genotyping or Phenotyping Issue? Autor Gonzalez-Alegre, Pedro, Di Paola, Jorge, Wang, Kai, Fabbro, Shay, Yu, Hung-Chun, Shaikh, Tamim H., Darbro, Benjamin W., Bassuk, Alexander G.

Získat plný text Získat plný text Získat plný text

Hcfc1b, a zebrafish ortholog of HCFC1, regulates craniofacial development by modulating mmachc expression Autor Quintana, Anita M., Geiger, Elizabeth A., Achilly, Nate, Rosenblatt, David S., Maclean, Kenneth N., Stabler, Sally P., Artinger, Kristin B., Appel, Bruce, Shaikh, Tamim H.

Získat plný text Získat plný text Získat plný text

Cytogenetics and Holoprosencephaly: A Chromosomal Microarray Study of 222 Individuals with Holoprosencephaly Autor Hu, Tommy, Kruszka, Paul, Martinez, Ariel F., Ming, Jeffrey E., Shabason, Emily K., Raam, Manu S., Shaikh, Tamim H., Pineda-Alvarez, Daniel E., Muenke, Maximilian

Získat plný text Získat plný text Získat plný text

Low copy repeats mediate distal chromosome 22q11.2 deletions: Sequence analysis predicts breakpoint mechanisms Autor Shaikh, Tamim H., O’Connor, Ronald J., Pierpont, Mary Ella, McGrath, James, Hacker, April M., Nimmakayalu, Manjunath, Geiger, Elizabeth, Emanuel, Beverly S., Saitta, Sulagna C.

Získat plný text Získat plný text Získat plný text

Genomic analysis using high density SNP based oligonucleotide arrays and MLPA provides a comprehensive analysis of INI1/SMARCB1 in malignant rhabdoid tumors Autor Jackson, Eric M., Sievert, Angela J., Gai, Xiaowu, Hakonarson, Hakon, Judkins, Alexander R, Tooke, Laura, Perin, Juan Carlos, Xie, Hongbo, Shaikh, Tamim H., Biegel, Jaclyn A.

Získat plný text Získat plný text Získat plný text

CNV Workshop: an integrated platform for high-throughput copy number variation discovery and clinical diagnostics Autor Gai, Xiaowu, Perin, Juan C, Murphy, Kevin, O'Hara, Ryan, D'arcy, Monica, Wenocur, Adam, Xie, Hongbo M, Rappaport, Eric F, Shaikh, Tamim H, White, Peter S

Získat plný text Získat plný text Získat plný text

Genome-wide analysis of copy number variants and normal facial variation in a large cohort of Bantu Africans Autor Null, Megan, Yilmaz, Feyza, Astling, David, Yu, Hung-Chun, Cole, Joanne B., Hallgrímsson, Benedikt, Santorico, Stephanie A., Spritz, Richard A., Shaikh, Tamim H., Hendricks, Audrey E.

Získat plný text Získat plný text Získat plný text