檢索結果 - Noonan, Kristin M.

Genetic Tools and Algorithms for Gene Discovery in Major Congenital Anomalies 由 Donahoe, Patricia K., Noonan, Kristin M., Lage, Kasper

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A Review of Donnai-Barrow and Facio-oculo-acoustico-renal (DB/FOAR) Syndrome: Clinical Features and Differential Diagnosis 由 Pober, Barbara R., Longoni, Mauro, Noonan, Kristin M.

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Negative regulation of the SH2-homology-containing protein-tyrosine phosphatase-1 (Shp-1) P2 promoter by the HTLV-1 tax oncoprotein 由 Cheng, Jihua, Kydd, Andre R, Nakase, Koichi, Noonan, Kristin M, Murakami, Akikazu, Tao, Hong, Zhu, Quan, Marasco, Wayne A

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Negative regulation of the SH(2)-homology–containing protein-tyrosine phosphatase-1 (SHP-1) P2 promoter by the HTLV-1 Tax oncoprotein 由 Cheng, Jihua, Kydd, Andre R., Nakase, Koichi, Noonan, Kristin M., Murakami, Akikazu, Tao, Hong, Dwyer, Markryan, Xu, Chen, Zhu, Quan, Marasco, Wayne A.

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Donnai–Barrow Syndrome (DBS/FOAR) in a Child With a Homozygous LRP2 Mutation Due to Complete Chromosome 2 Paternal Isodisomy 由 Kantarci, Sibel, Ragge, Nicola K., Thomas, N. Simon, Robinson, David O., Noonan, Kristin M., Russell, Meaghan K., Donnai, Dian, Raymond, F. Lucy, Walsh, Christopher A., Donahoe, Patricia K., Pober, Barbara R.

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Characterization of the Chromosome 1q41q42.12 region, and the Candidate Gene DISP1, in Patients with CDH 由 Kantarci, Sibel, Ackerman, Kate G, Russell, Meaghan N, Longoni, Mauro, Sougnez, Carrie, Noonan, Kristin M, Hatchwell, Eli, Zhang, Xiaoyun, Vanmarcke, Rafael Pieretti, Anyane-Yeboa, Kwame, Dickman, Paul, Wilson, Jay, Donahoe, Patricia K, Pober, Barbara R

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Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes 由 Kantarci, Sibel, Al-Gazali, Lihadh, Hill, R Sean, Donnai, Dian, Black, Graeme C M, Bieth, Eric, Chassaing, Nicolas, Lacombe, Didier, Devriendt, Koen, Teebi, Ahmad, Loscertales, Maria, Robson, Caroline, Liu, Tianming, MacLaughlin, David T, Noonan, Kristin M, Russell, Meaghan K, Walsh, Christopher A, Donahoe, Patricia K, Pober, Barbara R

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Congenital Diaphragmatic Hernia Interval on Chromosome 8p23.1 Characterized by Genetics and Protein Interaction Networks 由 Longoni, Mauro, Lage, Kasper, Russell, Meaghan K., Loscertales, Maria, Abdul-Rahman, Omar A., Baynam, Gareth, Bleyl, Steven B., Brady, Paul D., Breckpot, Jeroen, Chen, Chih P., Devriendt, Koenraad, Gillessen-Kaesbach, Gabriele, Grix, Arthur W., Rope, Alan F., Shimokawa, Osamu, Strauss, Bernarda, Wieczorek, Dagmar, Zackai, Elaine H., Coletti, Caroline M., Maalouf, Faouzi I., Noonan, Kristin M., Park, Ji H., Tracy, Adam A., Lee, Charles, Donahoe, Patricia K., Pober, Barbara R.

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