Prioritizing Genetic Testing in Patients With Kallmann Syndrome Using Clinical Phenotypes
Costa-Barbosa, Flavia Amanda, Balasubramanian, Ravikumar, Keefe, Kimberly W, Shaw, Natalie D, Al-Tassan, Nada, Plummer, Lacey, Dwyer, Andrew A, Buck, Cassandra L, Choi, Jin-Ho, Seminara, Stephanie B, Quinton, Richard, Monies, Dorota, Meyer, Brian, Hall, Janet E, Pitteloud, Nelly, Crowley, William F
Published in The journal of clinical endocrinology and metabolism (01.05.2013)
Published in The journal of clinical endocrinology and metabolism (01.05.2013)
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Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency
Balasubramanian, Ravikumar, Choi, Jin-Ho, Francescatto, Ludmila, Willer, Jason, Horton, Edward R., Asimacopoulos, Eleni P., Stankovic, Konstantina M., Plummer, Lacey, Buck, Cassandra L., Quinton, Richard, Nebesio, Todd D., Mericq, Veronica, Merino, Paulina M., Meyer, Brian F., Monies, Dorota, Gusella, James F., Tassan, Nada Al, Katsanis, Nicholas, Crowley, William F.
Published in Proceedings of the National Academy of Sciences - PNAS (16.12.2014)
Published in Proceedings of the National Academy of Sciences - PNAS (16.12.2014)
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Expanding the Spectrum of Founder Mutations Causing Isolated Gonadotropin-Releasing Hormone Deficiency
Choi, Jin-Ho, Balasubramanian, Ravikumar, Lee, Phil H, Shaw, Natalie D, Hall, Janet E, Plummer, Lacey, Buck, Cassandra L, Kottler, Marie-Laure, Jarzabek, Katarzyna, Wołczynski, Sławomir, Quinton, Richard, Latronico, Ana Claudia, Dode, Catherine, Ogata, Tsutomu, Kim, Hyung-Goo, Layman, Lawrence C, Gusella, James F, Crowley, William F
Published in The journal of clinical endocrinology and metabolism (01.10.2015)
Published in The journal of clinical endocrinology and metabolism (01.10.2015)
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Genetic counseling for isolated GnRH deficiency
Au, Margaret G., Crowley, William F., Buck, Cassandra L.
Published in Molecular and cellular endocrinology (22.10.2011)
Published in Molecular and cellular endocrinology (22.10.2011)
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A Shared Genetic Basis for Self-Limited Delayed Puberty and Idiopathic Hypogonadotropic Hypogonadism
Zhu, Jia, Choa, Ruth E.-Y, Guo, Michael H, Plummer, Lacey, Buck, Cassandra, Palmert, Mark R, Hirschhorn, Joel N, Seminara, Stephanie B, Chan, Yee-Ming
Published in The journal of clinical endocrinology and metabolism (01.04.2015)
Published in The journal of clinical endocrinology and metabolism (01.04.2015)
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Different Cerebellar Ataxia Phenotypes Associated with Mutations of the PNPLA6 Gene in Brazilian Patients with Recessive Ataxias
Teive, Hélio Afonso Ghizoni, Camargo, Carlos Henrique F., Sato, Mario Teruo, Shiokawa, Naoye, Boguszewski, Cesar L., Raskin, Salmo, Buck, Cassandra, Seminara, Stephanie B., Munhoz, Renato Puppi
Published in Cerebellum (London, England) (01.06.2018)
Published in Cerebellum (London, England) (01.06.2018)
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