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Author/Creator Soler‐Alfonso, Claudia

1. Case report and novel treatment of an autosomal recessive Leigh syndrome caused by short‐chain enoyl‐CoA hydratase deficiency. Issue 5 (7th March 2019)

Authors:
Shayota, Brian J.; Soler‐Alfonso, Claudia; Bekheirnia, Mir Reza; Mizerik, Elizabeth; Boyer, Suzy W.; Xiao, Rui; Yang, Yaping; Elsea, Sarah H.; Scaglia, Fernando
Journal:
American journal of medical genetics
Issue:
Volume 179:Issue 5(2019)
Page Start:
803
Record Type:
Journal Article
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2. Exome sequencing in children with clinically suspected maturity‐onset diabetes of the young. Issue 7 (19th August 2021)

Authors:
Tosur, Mustafa; Soler‐Alfonso, Claudia; Chan, Katie M.; Khayat, Michael M.; Jhangiani, Shalini N.; Meng, Qingchang; Refaey, Ahmad; Muzny, Donna; Gibbs, Richard A.; Murdock, David R.; Posey, Jennifer E.; Balasubramanyam, Ashok; Redondo, Maria J.; Sabo, Aniko
Journal:
Pediatric diabetes
Issue:
Volume 22:Issue 7(2021)
Page Start:
960
Record Type:
Journal Article
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4. PPP3CA truncating variants clustered in the regulatory domain cause early‐onset refractory epilepsy. Issue 2 (1st June 2021)

Authors:
Panneerselvam, Sugi; Wang, Julia; Zhu, Wenmiao; Dai, Hongzheng; Pappas, John G.; Rabin, Rachel; Low, Karen J.; Rosenfeld, Jill A.; Emrick, Lisa; Xiao, Rui; Xia, Fan; Yang, Yaping; Eng, Christine M.; Anderson, Anne; Chau, Vann; Soler‐Alfonso, Claudia; Streff, Haley; Lalani, Seema R.; Mercimek‐Andr...
Journal:
Clinical genetics
Issue:
Volume 100:Issue 2(2021)
Page Start:
227
Record Type:
Journal Article
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5. Short stature and growth hormone deficiency in a subset of patients with Potocki–Lupski syndrome: Expanding the phenotype of PTLS. Issue 9 (13th July 2020)

Authors:
Franciskovich, Rachel; Soler‐Alfonso, Claudia; Neira‐Fresneda, Juanita; Lupski, James R.; McCann‐Crosby, Bonnie; Potocki, Lorraine
Journal:
American journal of medical genetics
Issue:
Volume 182:Issue 9(2020)
Page Start:
2077
Record Type:
Journal Article
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6. Untargeted metabolomic profiling in a patient with glycogen storage disease Ib receiving empagliflozin treatment. Issue 4 (22nd May 2022)

Authors:
Tallis, Eran; Karsenty, Cecile L.; Grimes, Amanda B.; Karam, Lina B.; Elsea, Sarah H.; Sutton, Vernon Reed; Rawls‐Castillo, Brandy L.; Liu, Ning; Soler‐Alfonso, Claudia
Journal:
JIMD reports
Issue:
Volume 63:Issue 4(2022)
Page Start:
309
Record Type:
Journal Article
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