Loss of ADAMTS3 activity causes Hennekam lymphangiectasia-lymphedema syndrome 3
Brouillard, Pascal, Dupont, Laura, Helaers, Raphael, Coulie, Richard, Tiller, George E, Peeden, Joseph, Colige, Alain, Vikkula, Miikka
Published in Human molecular genetics (01.11.2017)
Published in Human molecular genetics (01.11.2017)
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A Novel Generalized Lipodystrophy-Associated Progeroid Syndrome Due to Recurrent Heterozygous LMNA p.T10I Mutation
Hussain, Iram, Patni, Nivedita, Ueda, Masako, Sorkina, Ekaterina, Valerio, Cynthia M, Cochran, Elaine, Brown, Rebecca J, Peeden, Joseph, Tikhonovich, Yulia, Tiulpakov, Anatoly, Stender, Sarah R S, Klouda, Elisabeth, Tayeh, Marwan K, Innis, Jeffrey W, Meyer, Anders, Lal, Priti, Godoy-Matos, Amelio F, Teles, Milena G, Adams-Huet, Beverley, Rader, Daniel J, Hegele, Robert A, Oral, Elif A, Garg, Abhimanyu
Published in The journal of clinical endocrinology and metabolism (01.03.2018)
Published in The journal of clinical endocrinology and metabolism (01.03.2018)
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The Eight and a Half Year Journey of Undiagnosed AD: Gene Sequencing and Funding of Advanced Genetic Testing Has Led to Hope and New Beginnings
Gozes, Illana, Patterson, Marc C, Van Dijck, Anke, Kooy, R Frank, Peeden, Joseph N, Eichenberger, Jacob A, Zawacki-Downing, Angela, Bedrosian-Sermone, Sandra
Published in Frontiers in endocrinology (Lausanne) (19.05.2017)
Published in Frontiers in endocrinology (Lausanne) (19.05.2017)
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Severe cleidocranial dysplasia and hypophosphatasia in a child with microdeletion of the C‐terminal region of RUNX2
El‐Gharbawy, Areeg H., Peeden, Joseph N., Lachman, Ralph S., Graham, John M., Moore, Stephen R., Rimoin, David L.
Published in American journal of medical genetics. Part A (01.01.2010)
Published in American journal of medical genetics. Part A (01.01.2010)
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De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus
Galosi, Serena, Edani, Ban H, Martinelli, Simone, Hansikova, Hana, Eklund, Erik A, Caputi, Caterina, Masuelli, Laura, Corsten-Janssen, Nicole, Srour, Myriam, Oegema, Renske, Bosch, Daniëlle G M, Ellis, Colin A, Amlie-Wolf, Louise, Accogli, Andrea, Atallah, Isis, Averdunk, Luisa, Barañano, Kristin W, Bei, Roberto, Bagnasco, Irene, Brusco, Alfredo, Demarest, Scott, Alaix, Anne-Sophie, Di Bonaventura, Carlo, Distelmaier, Felix, Elmslie, Frances, Gan-Or, Ziv, Good, Jean-Marc, Gripp, Karen, Kamsteeg, Erik-Jan, Macnamara, Ellen, Marcelis, Carlo, Mercier, Noëlle, Peeden, Joseph, Pizzi, Simone, Pannone, Luca, Shinawi, Marwan, Toro, Camilo, Verbeek, Nienke E, Venkateswaran, Sunita, Wheeler, Patricia G, Zdrazilova, Lucie, Zhang, Rong, Zorzi, Giovanna, Guerrini, Renzo, Sessa, William C, Lefeber, Dirk J, Tartaglia, Marco, Hamdan, Fadi F, Grabińska, Kariona A, Leuzzi, Vincenzo
Published in Brain (London, England : 1878) (29.03.2022)
Published in Brain (London, England : 1878) (29.03.2022)
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Tricuspid valve regurgitation and lithium carbonate toxicity in a newborn infant
Arnon, R G, Marin-Garcia, J, Peeden, J N
Published in American journal of diseases of children (1960) (01.10.1981)
Published in American journal of diseases of children (1960) (01.10.1981)
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The Eight and a Half Year Journey of Undiagnosed AD: Gene Sequencing and Funding of Advanced Genetic Testing Has Led to Hope and New Beginnings
Gozes, Illana, Patterson, Marc C, Van Dijck, Anke, Kooy, R Frank, Peeden, Joseph N, Eichenberger, Jacob A, Zawacki-Downing, Angela, Bedrosian-Sermone, Sandra
Published in Frontiers in endocrinology (01.01.2017)
Published in Frontiers in endocrinology (01.01.2017)
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Hypertelorism-hypospadias syndrome
Noe, H N, Peeden, J N, Jerkins, G R, Wilroy, Jr, R S
Published in The Journal of urology (01.11.1984)
Published in The Journal of urology (01.11.1984)
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Severe cleidocranial dysplasia and hypophosphatasia in a child with microdeletion of the C-terminal region of RUNX2
El-Gharbawy, Areeg H., Peeden Jr, Joseph N., Lachman, Ralph S., Graham Jr, John M., Moore, Stephen R., Rimoin, David L.
Published in American Journal of Medical Genetics Part A (01.01.2010)
Published in American Journal of Medical Genetics Part A (01.01.2010)
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