Deep Blue: Browsing by Author "Gahl, William A."

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Compound heterozygosity for lossâ ofâ function GARS variants results in a multisystem developmental syndrome that includes severe growth retardation

Oprescu, Stephanie N.; Chepa‐lotrea, Xenia; Takase, Ryuichi; Golas, Gretchen; Markello, Thomas C.; Adams, David R.; Toro, Camilo; Gropman, Andrea L.; Hou, Ya‐ming; Malicdan, May Christine V.; Gahl, William A.; Tifft, Cynthia J.; Antonellis, Anthony (Wiley Periodicals, Inc., 2017-10)

(381.9KB) (2.1MB) (1.5MB)
Predicted reciprocal serum creatinine at age 10 years as a measure of renal function in children with nephropathic cystinosis treated with oral cysteamine

Reed, George F.; Schulman, Joseph D.; Gahl, William A.; Thoene, Jess G.; Schneider, Jerry A. (Springer-Verlag; IPNA, 1990-03)

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Recent advances in the treatment of cystinosis

Schneider, Jerry A.; Clark, K. F.; Greene, A. A.; Reisch, J. S.; Markello, T. C.; Gahl, William A.; Thoene, Jess G.; Noonan, P. K.; Berry, K. A. (Kluwer Academic Publishers; Society for the Study of Inborn Errors of Metabolism and Kluwer Academic Publishers ; Springer Science+Business Media, 1995-07)

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SLC35A2â CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals

Ng, Bobby G.; Sosicka, Paulina; Agadi, Satish; Almannai, Mohammed; Bacino, Carlos A.; Barone, Rita; Botto, Lorenzo D.; Burton, Jennifer E.; Carlston, Colleen; Chung, Brian Hon‐yin; Cohen, Julie S.; Coman, David; Dipple, Katrina M.; Dorrani, Naghmeh; Dobyns, William B.; Elias, Abdallah F.; Epstein, Leon; Gahl, William A.; Garozzo, Domenico; Hammer, Trine Bjørg; Haven, Jaclyn; Héron, Delphine; Herzog, Matthew; Hoganson, George E.; Hunter, Jesse M.; Jain, Mahim; Juusola, Jane; Lakhani, Shenela; Lee, Hane; Lee, Joy; Lewis, Katherine; Longo, Nicola; Lourenço, Charles Marques; Mak, Christopher C.Y.; McKnight, Dianalee; Mendelsohn, Bryce A.; Mignot, Cyril; Mirzaa, Ghayda; Mitchell, Wendy; Muhle, Hiltrud; Nelson, Stanley F.; Olczak, Mariusz; Palmer, Christina G.S.; Partikian, Arthur; Patterson, Marc C.; Pierson, Tyler M.; Quinonez, Shane C.; Regan, Brigid M.; Ross, M. Elizabeth; Guillen Sacoto, Maria J.; Scaglia, Fernando; Scheffer, Ingrid E.; Segal, Devorah; Singhal, Nilika Shah; Striano, Pasquale; Sturiale, Luisa; Symonds, Joseph D.; Tang, Sha; Vilain, Eric; Willis, Mary; Wolfe, Lynne A.; Yang, Hui; Yano, Shoji; Powis, Zöe; Suchy, Sharon F.; Rosenfeld, Jill A.; Edmondson, Andrew C.; Grunewald, Stephanie; Freeze, Hudson H. (Wiley Periodicals, Inc.Cold Spring Harbor, 2019-07)

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