Found: 17

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  • Rubinstein–Taybi syndrome in diverse populations.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 12, p. 2939, doi. 10.1002/ajmg.a.61888
    By:
    • Tekendo‐Ngongang, Cedrik;
    • Owosela, Babajide;
    • Fleischer, Nicole;
    • Addissie, Yonit A.;
    • Malonga, Bryan;
    • Badoe, Ebenezer;
    • Gupta, Neerja;
    • Moresco, Angélica;
    • Huckstadt, Victoria;
    • Ashaat, Engy A.;
    • Hussen, Dalia Farouk;
    • Luk, Ho‐Ming;
    • Lo, Ivan F. M.;
    • Hon‐Yin Chung, Brian;
    • Fung, Jasmine L. F.;
    • Moretti‐Ferreira, Danilo;
    • Batista, Letícia Cassimiro;
    • Lotz‐Esquivel, Stephanie;
    • Saborio‐Rocafort, Manuel;
    • Badilla‐Porras, Ramses
    Publication type:
    Article

  • Turner syndrome in diverse populations.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 2, p. 303, doi. 10.1002/ajmg.a.61461
    By:
    • Kruszka, Paul;
    • Addissie, Yonit A.;
    • Tekendo‐Ngongang, Cedrik;
    • Jones, Kelly L.;
    • Savage, Sarah K.;
    • Gupta, Neerja;
    • Sirisena, Nirmala D.;
    • Dissanayake, Vajira H. W.;
    • Paththinige, C. Sampath;
    • Aravena, Teresa;
    • Nampoothiri, Sheela;
    • Yesodharan, Dhanya;
    • Girisha, Katta M.;
    • Patil, Siddaramappa Jagdish;
    • Jamuar, Saumya Shekhar;
    • Goh, Jasmine Chew‐Yin;
    • Utari, Agustini;
    • Sihombing, Nydia;
    • Mishra, Rupesh;
    • Chitrakar, Neer Shoba
    Publication type:
    Article

  • Tuberous sclerosis in a patient from Nigeria.

    Published in:
    American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1423, doi. 10.1002/ajmg.a.61194
    By:
    • Ekure, Ekanem N.;
    • Addissie, Yonit A.;
    • Sokunbi, Ogochukwu Jidechukwu;
    • Kruszka, Paul;
    • Muenke, Maximilian;
    • Adeyemo, Adebowale A.
    Publication type:
    Article

  • Cover Image, Volume 176A, Number 5, May 2018.

    Published in:
    American Journal of Medical Genetics. Part A, 2018, v. 176, n. 5, p. 1, doi. 10.1002/ajmg.a.38714
    By:
    • 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, Eloise J.;
    • Tanpaiboon, Pranoot;
    • Honey, Engela;
    • Luk, Ho‐Ming;
    • Lo, Ivan F. M.;
    • Thong, Meow‐Keong;
    • Muthukumarasamy, Premala;
    • Jones, Kelly L.
    Publication type:
    Article

  • Williams–Beuren syndrome in diverse populations.

    Published in:
    American Journal of Medical Genetics. Part A, 2018, v. 176, n. 5, p. 1128, doi. 10.1002/ajmg.a.38672
    By:
    • 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, Eloise J.;
    • Tanpaiboon, Pranoot;
    • Honey, Engela;
    • Luk, Ho‐Ming;
    • Lo, Ivan F. M.;
    • Thong, Meow‐Keong;
    • Muthukumarasamy, Premala;
    • Jones, Kelly L.
    Publication type:
    Article

  • Noonan syndrome in diverse populations.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 9, p. 2323, doi. 10.1002/ajmg.a.38362
    By:
    • Kruszka, Paul;
    • Porras, Antonio R.;
    • Addissie, Yonit A.;
    • Moresco, Angélica;
    • Medrano, Sofia;
    • Mok, Gary T. K.;
    • Leung, Gordon K. C.;
    • Tekendo‐Ngongang, Cedrik;
    • Uwineza, Annette;
    • Thong, Meow‐Keong;
    • Muthukumarasamy, Premala;
    • Honey, Engela;
    • Ekure, Ekanem N.;
    • Sokunbi, Ogochukwu J.;
    • Kalu, Nnenna;
    • Jones, Kelly L.;
    • Kaplan, Julie D.;
    • Abdul‐Rahman, Omar A.;
    • Vincent, Lisa M.;
    • Love, Amber
    Publication type:
    Article

  • Cover Image, Volume 173A, Number 9, September 2017.

    Published in:
    2017
    By:
    • Kruszka, Paul;
    • Porras, Antonio R.;
    • Addissie, Yonit A.;
    • Moresco, Angélica;
    • Medrano, Sofia;
    • Mok, Gary T. K.;
    • Leung, Gordon K. C.;
    • Tekendo‐Ngongang, Cedrik;
    • Uwineza, Annette;
    • Thong, Meow‐Keong;
    • Muthukumarasamy, Premala;
    • Honey, Engela;
    • Ekure, Ekanem N.;
    • Sokunbi, Ogochukwu J.;
    • Kalu, Nnenna;
    • Jones, Kelly L.;
    • Kaplan, Julie D.;
    • Abdul‐Rahman, Omar A.;
    • Vincent, Lisa M.;
    • Love, Amber
    Publication type:
    Other

  • Cover Image, Volume 173A, Number 4, April 2017.

    Published in:
    2017
    By:
    • Kruszka, Paul;
    • Addissie, Yonit A.;
    • McGinn, Daniel E.;
    • Porras, Antonio R.;
    • Biggs, Elijah;
    • Share, Matthew;
    • Crowley, T. Blaine;
    • Chung, Brian H. Y.;
    • Mok, Gary T. K.;
    • Mak, Christopher C. Y.;
    • Muthukumarasamy, Premala;
    • Thong, Meow‐Keong;
    • Sirisena, Nirmala D.;
    • Dissanayake, Vajira H. W.;
    • Paththinige, C. Sampath;
    • Prabodha, L. B. Lahiru;
    • Mishra, Rupesh;
    • Shotelersuk, Vorasuk;
    • Ekure, Ekanem Nsikak;
    • Sokunbi, Ogochukwu Jidechukwu
    Publication type:
    Other

  • 22q11.2 deletion syndrome in diverse populations.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 4, p. 879, doi. 10.1002/ajmg.a.38199
    By:
    • Kruszka, Paul;
    • Addissie, Yonit A.;
    • McGinn, Daniel E.;
    • Porras, Antonio R.;
    • Biggs, Elijah;
    • Share, Matthew;
    • Crowley, T. Blaine;
    • Chung, Brian H. Y.;
    • Mok, Gary T. K.;
    • Mak, Christopher C. Y.;
    • Muthukumarasamy, Premala;
    • Thong, Meow‐Keong;
    • Sirisena, Nirmala D.;
    • Dissanayake, Vajira H. W.;
    • Paththinige, C. Sampath;
    • Prabodha, L. B. Lahiru;
    • Mishra, Rupesh;
    • Shotelersuk, Vorasuk;
    • Ekure, Ekanem Nsikak;
    • Sokunbi, Ogochukwu Jidechukwu
    Publication type:
    Article

  • Down syndrome in diverse populations.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 42, doi. 10.1002/ajmg.a.38043
    By:
    • Kruszka, Paul;
    • Porras, Antonio R.;
    • Sobering, Andrew K.;
    • Ikolo, Felicia A.;
    • La Qua, Samantha;
    • Shotelersuk, Vorasuk;
    • Chung, Brian H. Y.;
    • Mok, Gary T. K.;
    • Uwineza, Annette;
    • Mutesa, Leon;
    • Moresco, Angélica;
    • Obregon, María Gabriela;
    • Sokunbi, Ogochukwu Jidechukwu;
    • Kalu, Nnenna;
    • Joseph, Daniel Akinsanya;
    • Ikebudu, Desmond;
    • Ugwu, Christopher Emeka;
    • Okoromah, Christy A. N.;
    • Addissie, Yonit A.;
    • Pardo, Katherine L.
    Publication type:
    Article

  • Muenke syndrome: An international multicenter natural history study.

    Published in:
    American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 4, p. 918, doi. 10.1002/ajmg.a.37528
    By:
    • Kruszka, Paul;
    • Addissie, Yonit A.;
    • Yarnell, Colin M. P.;
    • Hadley, Donald W.;
    • Guillen Sacoto, Maria J.;
    • Platte, Petra;
    • Paelecke, Yvonne;
    • Collmann, Hartmut;
    • Snow, Nicole;
    • Schweitzer, Tilmann;
    • Boyadjiev, Simeon A.;
    • Aravidis, Christos;
    • Hall, Samantha E.;
    • Mulliken, John B.;
    • Roscioli, Tony;
    • Muenke, Maximilian
    Publication type:
    Article

  • Craniosynostosis and Noonan syndrome with KRAS mutations: Expanding the phenotype with a case report and review of the literature.

    Published in:
    American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2657, doi. 10.1002/ajmg.a.37259
    By:
    • Addissie, Yonit A.;
    • Kotecha, Udhaya;
    • Hart, Rachel A.;
    • Martinez, Ariel F.;
    • Kruszka, Paul;
    • Muenke, Maximilian
    Publication type:
    Article

  • Muenke syndrome.

    Published in:
    Middle East Journal of Medical Genetics, 2015, v. 4, n. 1, p. 1, doi. 10.1097/01.MXE.0000456629.07295.8e
    By:
    • Addissie, Yonit A.;
    • Yarnell, Colin M. P.;
    • Kruszka, Paul;
    • Muenke, Maximilian
    Publication type:
    Article

  • Identifying environmental risk factors and gene–environment interactions in holoprosencephaly.

    Published in:
    Birth Defects Research, 2021, v. 113, n. 1, p. 63, doi. 10.1002/bdr2.1834
    By:
    • Addissie, Yonit A.;
    • Troia, Angela;
    • Wong, Zoe C.;
    • Everson, Joshua L.;
    • Kozel, Beth A.;
    • Muenke, Maximilian;
    • Lipinski, Robert J.;
    • Malecki, Kristen M.C.;
    • Kruszka, Paul
    Publication type:
    Article

  • Circle of Willis anomalies in Turner syndrome: Absent A1 segment of the anterior cerebral artery.

    Published in:
    Birth Defects Research, 2019, v. 111, n. 19, p. 1584, doi. 10.1002/bdr2.1609
    By:
    • Kruszka, Paul;
    • Buscetta, Ashley;
    • Acosta, Maria T.;
    • Banks, Nicole;
    • Addissie, Yonit A.;
    • Toro, Camilo;
    • Luby, Marie;
    • Latour, Lawrence;
    • Vezina, Gilbert;
    • Page, David C.;
    • Muenke, Maximilian
    Publication type:
    Article

  • Uptake and predictors of colonoscopy use in family members not participating in cascade genetic testing for Lynch syndrome.

    Published in:
    Scientific Reports, 2020, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41598-020-72938-z
    By:
    • Hadley, Donald W.;
    • Eliezer, Dina;
    • Addissie, Yonit;
    • Goergen, Andrea;
    • Ashida, Sato;
    • Koehly, Laura
    Publication type:
    Article

  • Prenatal exposure to pesticides and risk for holoprosencephaly: a case-control study.

    Published in:
    2020
    By:
    • Addissie, Yonit A.;
    • Kruszka, Paul;
    • Troia, Angela;
    • Wong, Zoë C.;
    • Everson, Joshua L.;
    • Kozel, Beth A.;
    • Lipinski, Robert J.;
    • Malecki, Kristen M. C.;
    • Muenke, Maximilian
    Publication type:
    journal article