Browsing by Author "Wonkam, Ambroise"

Browsing by Author "Wonkam, Ambroise"

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  • Cornelia de Lange syndrome in diverse populations 
    Dowsett, Leah; Porras, Antonio R.; Kruszka, Paul; Davis, Brandon; Hu, Tommy; Honey, Engela M.; Badoe, Eben; Thong, Meow-Keong; Leon, Eyby; Girisha, Katta M.; Shukla, Anju; Nayak, Shalini S.; Shotelersuk, Vorasuk; Megarbane, Andre; Phadke, Shubha; Sirisena, Nirmala D.; Dissanayake, Vajira H.W.; Ferreira, Carlos R.; Kisling, Monisha S.; Tanpaiboon, Pranoot; Uwineza, Annette; Mutesa, Leon; Tekendo-Ngongang, Cedrik; Wonkam, Ambroise; Fieggen, Karen; Batista, Leticia Cassimiro; Moretti-Ferreira, Danilo; Stevenson, Roger E.; Prijoles, Eloise J.; Everman, David; Clarkson, Kate; Worthington, Jessica; Kimonis, Virginia; Hisama, Fuki; Crowe, Carol; Wong, Paul; Johnson, Kisha; Clark, Robin D.; Bird, Lynne; Masser-Frye, Diane; McDonald, Marie; Willems, Patrick; Roeder, Elizabeth; Saitta, Sulgana; Anyane-Yeoba, Kwame; Demmer, Laurie; Hamajima, Naoki; Stark, Zornitza; Gillies, Greta; Hudgins, Louanne; Dave, Usha; Shalev, Stavit; Siu, Victoria; Ades, Ann; Dubbs, Holly; Raible, Sarah; Kaur, Maninder; Salzano, Emanuela; Jackson, Laird; Deardorff, Matthew; Kline, Antonie; Summar, Marshall; Muenke, Maximilian; Linguraru, Marius George; Krantz, Ian D. (Wiley, 2019-02)
    Cornelia de Lange syndrome (CdLS) is a dominant multisystemic malformation syndrome due to mutations in five genes—NIPBL, SMC1A, HDAC8, SMC3, and RAD21. The characteristic facial dysmorphisms include microcephaly, arched ...
  • Williams–Beuren syndrome in diverse populations 
    Kruszka, Paul.; Porras, Antonio R.; De Souza, Deise Helena; Moresco, Angélica; Huckstadt, Victoria; Gill, Ashleigh D.; Boyle, Alec P.; Hu, Tommy; Addissie, Yonit A.; Mok, Gary T.K.; Tekendo-Ngongang, Cedrik; Fieggen, Karen; Prijoles, E.J.; Tanpaiboon, Pranoot; Honey, Engela M.; El Ruby, Mona O.; Ho-Ming, Luk; Lo, Ivan F.M.; Thong, Meow-Keong; Muthukumarasamy, Premala; Jones, Kelly L.; Belhassan, Khadija; Ouldim, Karim; El Bouchikhi, Ihssane; Bouguenouch, Laila; Shukla, Anju; Girisha, Katta M.; Sirisena, Nirmala D.; Dissanayake, Vajira H.W.; Paththinige, C. Sampath; Mishra, Rupesh; Kisling, Monisha S.; Ferreira, Carlos R.; De Herreros, María Beatriz; Lee, Ni-Chung; Jamuar, Saumya S.; Lai, Angeline; Shien, Tan Ee; Lim, Jiin Ying; Wen-Min, Cham Breana; Gupta, Neerja; Lotz-Esquivel, Stephanie; Badilla-Porras, Ramsés; Hussen, Dalia Farouk; El Ruby, Mona O.; Ashaat, Engy A.; Patil, Siddaramappa J.; Dowsett, Leah; Eaton, Alison; Innes, A.Micheil; Shotelersuk, Vorasuk; Badoe, Ëben; Wonkam, Ambroise; Obregon, María Gabriela; Chung, Brian H.Y.; Trubnykova, Milana; La Serna, Jorge; Gallardo Jugo, Bertha Elena; Chávez Pastor, Miguel; Abarca Barrig, Hugo Hernán; Megarbane, Andre; Kozel, Beth A.; Stevenson, Roger E.; Summar, Marshall; Adeyemo, Adeyemo A.; Morris, Colleen A.; Moretti-Ferreira, Danilo; Linguraru, Marius George; Muenke, Maximilian (Wiley, 2018-05)
    Williams–Beuren syndrome (WBS) is a common microdeletion syndrome characterized by a 1.5Mb deletion in 7q11.23. The phenotype of WBS has been well described in populations of European descent with not as much attention ...