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87by Seyram Kaali, Darby Jack, Rupert Delimini, Lisa Hu, Katrin Burkart, Jones Opoku-Mensah, Ashlinn Quinn, Kenneth Ayuurebobi Ae-Ngibise, Blair Wylie, Ellen Abrafi Boamah-Kaali, Steven Chillrud, Seth Owusu-Agyei, Patrick L. Kinney, Andrea A. Baccarelli, Kwaku Poku Asante, Alison LeeSubjects: “...mitochondrial DNA copy number...”
Published 2018-12-01
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88by Annette Mouritsen, Alexander Siegfried Busch, Lise Aksglaede, Ewa Rajpert-De Meyts, Anders Juul“..., we found that homozygous deletion of UGT2B17 in boys was associated with lower urinary excretion...”
Published 2018-03-01
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93by Johnston Jennifer J, Ng David, Schneider Adele S, Bardakjian Tanya M, Biesecker Leslie G“..., imperforate anus, and ear anomalies. We present a 13-year-old boy with a syndromic microphthalmia phenotype...”
Published 2009-12-01
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94by Hoo Young Lee, Dae-Hyun Jang, Jae-Won Kim, Dong-Woo Lee, Ja-Hyun Jang, Joungsu JooSubjects: “...DNA copy number variation...”
Published 2021-08-01
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99by Roberta Milone MD, Anna Rita Ferrari MD, Rosa Pasquariello MD, Stefania Bargagna MD“.... The authors describe a boy harboring a de novo 16p13.3-13.2 interstitial deletion, with intellectual...”
Published 2016-12-01
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