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221by Rudolf Happle“...Progressive osseous heteroplasia (POH) is a rarely occurring genetic condition characterized...”
Published 2021-01-01
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224by Thomas Liehr“... information about genetic condition(s) of an unborn child. The highly praised advantage of NIPT-screening...”
Published 2021-06-01
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225by Sheila Pérez, MD, Patricia Mulero-Soto, MD, Alexandra Schoene, MD, Gabriel Pereira, MD, Rafael Santini-Domínguez, MD, Jorge Martínez-Trabal, MD, FACS“...Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem neurocutaneous genetic...”
Published 2021-06-01
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226“...Objectives Babies born with the genetic condition albinism lack pigment in their hair, skin...”
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227“... 1 (NF1) is an incurable genetic condition that frequently includes the development of plexiform...”
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228“...Abstract Background Wiedemann‐Steiner Syndrome (WSS) is an autosomal dominant genetic condition...”
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229by Kambowe, Hannah“... they require lifelong care due to the disabling consequences of the genetic condition. Evidence is lacking...”
Published 2020
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Dissertation -
230“..., adolescents and adults diagnosed with a genetic condition associated with differences of sex...”
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231“...>Fabry disease is a genetic condition that causes lysosomal storage of products like glotriaosylceramide...”
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232by Jun-Hung Cho, Bhaumik Patel, Santosh Bonala, Sasikanth Manne, Yan Zhou, Surya K. Vadrevu, Jalpa Patel, Marco Peronaci, Shanawaz Ghouse, Elizabeth P. Henske, Fabrice Roegiers, Krinio Giannikou, David J. Kwiatkowski, Hossein Mansouri, Maciej M. Markiewski, Brandon White, Magdalena Karbowniczek“...Tuberous sclerosis complex (TSC) is a rare genetic condition causing tumours with differentiation...”
Published 2017-11-01
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233“... the mechanisms underlying genetic conditions during the “reproductive journey”....”
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234by Bassam R Ali, Imen Ben-Rebeh, Anne John, Nadia A Akawi, Reham M Milhem, Nouf A Al-Shehhi, Mouza M Al-Ameri, Shamma A Al-Shamisi, Lihadh Al-Gazali“...Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant genetic condition affecting...”
Published 2011-01-01
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235by Virginia Kimonis, Abhilasha Surampalli, Marie Wencel, June-Anne Gold, Neil M Cowen“...INTRODUCTION:Prader-Willi syndrome (PWS) is a complex genetic condition characterized...”
Published 2019-01-01
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236by Elisabeth Daae, Kristin Billaud Feragen, Anne Waehre, Ingrid Nermoen, Ingrid Nermoen, Henrik Falhammar“...Congenital adrenal hyperplasia (CAH) is a genetic condition of the steroidogenic enzymes...”
Published 2020-03-01
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237by Pinilla-Monsalve GD, Lores J, Pachajoa H, López-Ponce de León JD, López A, Rodríguez-Rojas LX, Nastasi-Catanese JA“.... Familial chylomicronemia syndrome (FCS) is a rare genetic condition associated with recurrent and severe...”
Published 2020-03-01
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238“... of diagnosing a very rare genetic condition, still not well-known, which presents symptoms easily mistaken...”
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239“... and seizure disorders. This rare genetic condition is associated with changes in GABAA receptor. Patients...”
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240by Salvatore Savasta, Alberto Verrotti, Maria Valentina Spartà, Thomas Foiadelli, Maria Pia Villa, Pasquale Parisi“... to anticonvulsant therapy; however, intriguingly, we could not demonstrate a mosaicism as the genetic condition...”
Published 2015-01-01
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