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Published in Journal of applied crystallography (01.06.2014)
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Published in American journal of human genetics (01.10.2008)
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Mass Balance and Performance Analysis of Potassium Hydroxide Activated Carbon
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Nasal embryonic LHRH factor (NELF) mutations in patients with normosmic hypogonadotropic hypogonadism and Kallmann syndrome
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Corrections to “Mass Balance and Performance Analysis of Potassium Hydroxide Activated Carbon”
Hilton, R, Bick, P, Tekeei, A, Leimkuehler, E, Pfeifer, P, Suppes, G. J
Published in Industrial & engineering chemistry research (27.03.2013)
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The prevalence of intragenic deletions in patients with idiopathic hypogonadotropic hypogonadism and Kallmann syndrome
Pedersen-White, Jennifer R., Chorich, Lynn P., Bick, David P., Sherins, Richard J., Layman, Lawrence C.
Published in Molecular human reproduction (01.06.2008)
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Clinical and molecular characterization of a large sample of patients with hypogonadotropic hypogonadism
Bhagavath, Balasubramanian, Podolsky, Robert H., Ozata, Metin, Bolu, Erol, Bick, David P., Kulharya, Anita, Sherins, Richard J., Layman, Lawrence C.
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Birth of a healthy infant following preimplantation PKHD1 haplotyping for autosomal recessive polycystic kidney disease using multiple displacement amplification
Lau, Eduardo C., Janson, Marleen M., Roesler, Mark R., Avner, Ellis D., Strawn, Estil Y., Bick, David P.
Published in Journal of assisted reproduction and genetics (01.07.2010)
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Mutations in gonadotropin-releasing hormone receptor gene cause hypogonadotropic hypogonadism
Layman, Lawrence C, Cohen, David P, Jin, Mei, Xie, Jun, Li, Zhu, Reindollar, Richard H, Bolbolan, Shahla, Bick, David P, Sherins, Richard R, Duck, L. Wayne, Musgrove, Lois C, Sellers, Jeffrey C, Neill, Jimmy D
Published in Nature genetics (01.01.1998)
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Assuring the quality of next-generation sequencing in clinical laboratory practice
Gargis, Amy S, Kalman, Lisa, Berry, Meredith W, Bick, David P, Dimmock, David P, Hambuch, Tina, Lu, Fei, Lyon, Elaine, Voelkerding, Karl V, Zehnbauer, Barbara A, Agarwala, Richa, Bennett, Sarah F, Chen, Bin, Chin, Ephrem L H, Compton, John G, Das, Soma, Farkas, Daniel H, Ferber, Matthew J, Funke, Birgit H, Furtado, Manohar R, Ganova-Raeva, Lilia M, Geigenmüller, Ute, Gunselman, Sandra J, Hegde, Madhuri R, Johnson, Philip L F, Kasarskis, Andrew, Kulkarni, Shashikant, Lenk, Thomas, Liu, C S Jonathan, Manion, Megan, Manolio, Teri A, Mardis, Elaine R, Merker, Jason D, Rajeevan, Mangalathu S, Reese, Martin G, Rehm, Heidi L, Simen, Birgitte B, Yeakley, Joanne M, Zook, Justin M, Lubin, Ira M
Published in Nature biotechnology (01.11.2012)
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Making a definitive diagnosis: Successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease
Worthey, Elizabeth A, Mayer, Alan N, Syverson, Grant D, Helbling, Daniel, Bonacci, Benedetta B, Decker, Brennan, Serpe, Jaime M, Dasu, Trivikram, Tschannen, Michael R, Veith, Regan L, Basehore, Monica J, Broeckel, Ulrich, Tomita-Mitchell, Aoy, Arca, Marjorie J, Casper, James T, Margolis, David A, Bick, David P, Hessner, Martin J, Routes, John M, Verbsky, James W, Jacob, Howard J, Dimmock, David P
Published in Genetics in medicine (01.03.2011)
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Good laboratory practice for clinical next-generation sequencing informatics pipelines
Gargis, Amy S, Kalman, Lisa, Bick, David P, da Silva, Cristina, Dimmock, David P, Funke, Birgit H, Gowrisankar, Sivakumar, Hegde, Madhuri R, Kulkarni, Shashikant, Mason, Christopher E, Nagarajan, Rakesh, Voelkerding, Karl V, Worthey, Elizabeth A, Aziz, Nazneen, Barnes, John, Bennett, Sarah F, Bisht, Himani, Church, Deanna M, Dimitrova, Zoya, Gargis, Shaw R, Hafez, Nabil, Hambuch, Tina, Hyland, Fiona C L, Luna, Ruth Ann, MacCannell, Duncan, Mann, Tobias, McCluskey, Megan R, McDaniel, Timothy K, Ganova-Raeva, Lilia M, Rehm, Heidi L, Reid, Jeffrey, Campo, David S, Resnick, Richard B, Ridge, Perry G, Salit, Marc L, Skums, Pavel, Wong, Lee-Jun C, Zehnbauer, Barbara A, Zook, Justin M, Lubin, Ira M
Published in Nature biotechnology (01.07.2015)
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The prevalence of gonadotropin-releasing hormone receptor mutations in a large cohort of patients with hypogonadotropic hypogonadism
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WDR11, a WD Protein that Interacts with Transcription Factor EMX1, Is Mutated in Idiopathic Hypogonadotropic Hypogonadism and Kallmann Syndrome
Kim, Hyung-Goo, Ahn, Jang-Won, Kurth, Ingo, Ullmann, Reinhard, Kim, Hyun-Taek, Kulharya, Anita, Ha, Kyung-Soo, Itokawa, Yasuhide, Meliciani, Irene, Wenzel, Wolfgang, Lee, Deresa, Rosenberger, Georg, Ozata, Metin, Bick, David P., Sherins, Richard J., Nagase, Takahiro, Tekin, Mustafa, Kim, Soo-Hyun, Kim, Cheol-Hee, Ropers, Hans-Hilger, Gusella, James F., Kalscheuer, Vera, Choi, Cheol Yong, Layman, Lawrence C.
Published in American journal of human genetics (08.10.2010)
Published in American journal of human genetics (08.10.2010)
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Evaluation for Genetic Disorders in the Absence of a Clinical Indication for Testing: Elective Genomic Testing
Lu, James T, Ferber, Matthew, Hagenkord, Jill, Levin, Elissa, South, Sarah, Kang, Hyunseok P, Strong, Kimberly A, Bick, David P
Published in The Journal of molecular diagnostics : JMD (01.01.2019)
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Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States
Miller, Marcus J., Burrage, Lindsay C., Gibson, James B., Strenk, Meghan E., Lose, Edward J., Bick, David P., Elsea, Sarah H., Sutton, V. Reid, Sun, Qin, Graham, Brett H., Craigen, William J., Zhang, Victor Wei, Wong, Lee-Jun C.
Published in Molecular genetics and metabolism (01.11.2015)
Published in Molecular genetics and metabolism (01.11.2015)
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