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Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions.
Ng, Bobby G,Eklund, Erik A,Shiryaev, Sergey A,Dong, Yin Y,Abbott, Mary-Alice,Asteggiano, Carla,Bamshad, Michael J,Barr, Eileen,Bernstein, Jonathan A,Chelakkadan, Shabeed,Christodoulou, John,Chung, Wendy K,Ciliberto, Michael A,Cousin, Janice,Gardiner, Fiona,Ghosh, Suman,Graf, William D,Grunewald, Stephanie,Hammond, Katherine,Hauser, Natalie S,Hoganson, George E,Houck, Kimberly M,Kohler, Jennefer N,Morava, Eva,Larson, Austin A,Liu, Pengfei,Madathil, Sujana,McCormack, Colleen,Meeks, Naomi J L,Miller, Rebecca,Monaghan, Kristin G,Nickerson, Deborah A,Palculict, Timothy Blake,Papazoglu, Gabriela Magali,Pletcher, Beth A,Scheffer, Ingrid E,Schenone, Andrea Beatriz,Schnur, Rhonda E,Si, Yue,Rowe, Leah J,Serrano Russi, Alvaro H,Russo, Rossana Sanchez,Thabet, Farouq,Tuite, Allysa,Villanueva, María Mercedes,Wang, Raymond Y,Webster, Richard I,Wilson, Dorcas,Zalan, Alice,Wolfe, Lynne A,Rosenfeld, Jill A,Rhodes, Lindsay,Freeze, Hudson H. Journal of Inherited Metabolic Disease 2020; 43(6): 1333-1348
Botox rechallenge-An additional tool in the management of an incompletely emptying bladder and inadequate overactive symptom control following sacral neuromodulation.
Timm, Brennan,Jayarajan, Jyotsna,Chan, Garson,Bolton, Damien M. Lower Urinary Tract Symptoms 2021; 13(1): 194-197
A pilot study of intrahepatic yttrium-90 microsphere radioembolization in combination with intravenous cisplatin for uveal melanoma liver-only metastases.
Arulananda, Surein,Parakh, Sagun,Palmer, Jodie,Goodwin, Mark D,Andrews, Miles C,Cebon, Jonathan S. Cancer Reports 2019; 2(4): e1183
Ventilation During Cardiopulmonary Bypass: Can We, Must We, Should We Individualize It?
Schultz, Marcus J,Zochios, Vasileios,Serpa Neto, Ary. Chest 2021; 159(5): 1703-1705
The role of illness perceptions and exercise beliefs in exercise engagement during treatment for cancer.
Cole, Siân F,Skaczkowski, Gemma,Wilson, Carlene J. Supportive Care in Cancer 2021; 29(9): 5065-5073