Результаты поиска - FitzPatrick, David R.

Anophthalmia and microphthalmia по Verma, Amit S, FitzPatrick, David R

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The genetic architecture of aniridia and Gillespie syndrome по Hall, Hildegard Nikki, Williamson, Kathleen A., FitzPatrick, David R.

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Variant detection sensitivity and biases in whole genome and exome sequencing по Meynert, Alison M, Ansari, Morad, FitzPatrick, David R, Taylor, Martin S

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The RNA-binding landscape of RBM10 and its role in alternative splicing regulation in models of mouse early development по Rodor, Julie, FitzPatrick, David R., Eyras, Eduardo, Cáceres, Javier F.

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CGG-Repeat Expansion in the DIP2B Gene Is Associated with the Fragile Site FRA12A on Chromosome 12q13.1 по Winnepenninckx, Birgitta , Debacker, Kim , Ramsay, Jacqueline , Smeets, Dominique , Smits, Arie , FitzPatrick, David R. , Kooy, R. Frank 

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Diagnostically relevant facial gestalt information from ordinary photos по Ferry, Quentin, Steinberg, Julia, Webber, Caleb, FitzPatrick, David R, Ponting, Chris P, Zisserman, Andrew, Nellåker, Christoffer

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Evaluating variants classified as pathogenic in ClinVar in the DDD Study по Wright, Caroline F., Eberhardt, Ruth Y., Constantinou, Panayiotis, Hurles, Matthew E., FitzPatrick, David R., Firth, Helen V.

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Bilateral Renal Agenesis/Hypoplasia/Dysplasia (BRAHD): Postmortem Analysis of 45 Cases with Breakpoint Mapping of Two De Novo Translocations по Harewood, Louise, Liu, Monica, Keeling, Jean, Howatson, Alan, Whiteford, Margo, Branney, Peter, Evans, Margaret, Fantes, Judy, FitzPatrick, David R.

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Returning genome sequences to research participants: Policy and practice по Wright, Caroline F., Middleton, Anna, Barrett, Jeffrey C., Firth, Helen V., FitzPatrick, David R., Hurles, Matthew E., Parker, Michael

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Mutational bias in spermatogonia impacts the anatomy of regulatory sites in the human genome по Kaiser, Vera B., Talmane, Lana, Kumar, Yatendra, Semple, Fiona, MacLennan, Marie, FitzPatrick, David R., Taylor, Martin S., Semple, Colin A.

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Cornelia de Lange syndrome-associated mutations cause a DNA damage signalling and repair defect по Olley, Gabrielle, Pradeepa, Madapura M., Grimes, Graeme R., Piquet, Sandra, Polo, Sophie E., FitzPatrick, David R., Bickmore, Wendy A., Boumendil, Charlene

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A rare de novo nonsense mutation in OTX2 causes early onset retinal dystrophy and pituitary dysfunction по Henderson, Robert H., Williamson, Kathleen A., Kennedy, Joanna S., Webster, Andrew R., Holder, Graham E., Robson, Anthony G., FitzPatrick, David R., van Heyningen, Veronica, Moore, Anthony T.

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Clinical and mutation analysis of 51 probands with anophthalmia and/or severe microphthalmia from a single center по Gerth-Kahlert, Christina, Williamson, Kathleen, Ansari, Morad, Rainger, Jacqueline K, Hingst, Volker, Zimmermann, Theodor, Tech, Stefani, Guthoff, Rudolf F, van Heyningen, Veronica, FitzPatrick, David R

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Mutations in the 3β-Hydroxysterol Δ(24)-Reductase Gene Cause Desmosterolosis, an Autosomal Recessive Disorder of Cholesterol Biosynthesis по Waterham, Hans R., Koster, Janet, Romeijn, Gerrit Jan, Hennekam, Raoul C.M., Vreken, Peter, Andersson, Hans C., FitzPatrick, David R., Kelley, Richard. I., Wanders, Ronald J. A.

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Familial Recurrence of SOX2 Anophthalmia Syndrome: Phenotypically Normal Mother with Two Affected Daughters по Schneider, Adele, Bardakjian, Tanya M., Zhou, Jie, Hughes, Nkecha, Keep, Rosanne, Dorsainville, Darnelle, Kherani, Femida, Katowitz, James, Schimmenti, Lisa A., Hummel, Marybeth, FitzPatrick, David R, Young, Terri L.

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Novel de novo EEF1A2 missense mutations causing epilepsy and intellectual disability по Lam, Wayne W.K., Millichap, John J., Soares, Dinesh C., Chin, Richard, McLellan, Ailsa, FitzPatrick, David R., Elmslie, Frances, Lees, Melissa M., Schaefer, G. Bradley, Abbott, Catherine M.

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Esrrg functions in early branch generation of the ureteric bud and is essential for normal development of the renal papilla по Berry, Rachel, Harewood, Louise, Pei, Liming, Fisher, Malcolm, Brownstein, David, Ross, Allyson, Alaynick, William A., Moss, Julie, Hastie, Nicholas D., Hohenstein, Peter, Davies, Jamie A., Evans, Ronald M., FitzPatrick, David R.

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De novo mutations in regulatory elements in neurodevelopmental disorders по Short, Patrick J., McRae, Jeremy F., Gallone, Giuseppe, Sifrim, Alejandro, Won, Hyejung, Geschwind, Daniel H., Wright, Caroline F., Firth, Helen V, FitzPatrick, David R., Barrett, Jeffrey C., Hurles, Matthew E.

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Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals по Kharbanda, Mira, Pilz, Daniela T, Tomkins, Susan, Chandler, Kate, Saggar, Anand, Fryer, Alan, McKay, Victoria, Louro, Pedro, Smith, Jill Clayton, Burn, John, Kini, Usha, De Burca, Anna, FitzPatrick, David R, Kinning, Esther

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Human-specific gain of function in a developmental enhancer по Prabhakar, Shyam, Visel, Axel, Akiyama, Jennifer A., Shoukry, Malak, Lewis, Keith D., Holt, Amy, Plajzer-Frick, Ingrid, Morrison, Harris, FitzPatrick, David R., Afzal, Veena, Pennacchio, Len A., Rubin, Edward M., Noonan, James P.

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