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Mutation profiling in South African patients with Cornelia de Lange syndrome phenotype.
Published in:
Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2342
By:
- Seymour, Heather;
- Feben, Candice;
- Nevondwe, Patracia;
- Kerr, Robyn;
- Spencer, Careni;
- Mudau, Maria;
- Honey, Engela;
- Lombard, Zane;
- Krause, Amanda;
- Carstens, Nadia
Publication type:
Article
Cornelia de Lange syndrome in diverse populations.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 2, p. 150, doi. 10.1002/ajmg.a.61033
By:
- Dowsett, Leah;
- Porras, Antonio R.;
- Kruszka, Paul;
- Davis, Brandon;
- Hu, Tommy;
- Honey, Engela;
- 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
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
Novel Mutation in the IDS Gene in Hunter Syndrome Associated with Severe Cardiac Lesions.
Published in:
Clinical Chemistry, 2021, v. 67, n. 3, p. 564, doi. 10.1093/clinchem/hvaa334
By:
- Satekge, Tumelo M.;
- Honey, Engela M.;
- Pitso, Boitumelo;
- Dercksen, Marli;
- Pillaya, Tahir S.
Publication type:
Article
Holoprosencephaly with clefts: Data of 85 patients, treatment and outcome: Part 1: History, subdivisions, and data on 85 holoprosencephalic cleft patients.
Published in:
Annals of Maxillofacial Surgery, 2019, v. 9, n. 1, p. 140, doi. 10.4103/ams.ams_50_19
By:
- Honey, Engela;
- Bütow, Kurt;
- Zwahlen, Roger
Publication type:
Article
A de novo 2.2 Mb recurrent 17q23.1q23.2 deletion unmasks novel putative regulatory non-coding SNVs associated with lethal lung hypoplasia and pulmonary hypertension: a case report.
Published in:
BMC Medical Genomics, 2020, v. 13, n. 1, p. 1, doi. 10.1186/s12920-020-0701-6
By:
- Karolak, Justyna A.;
- Gambin, Tomasz;
- Honey, Engela M.;
- Slavik, Tomas;
- Popek, Edwina;
- Stankiewicz, Paweł
Publication type:
Article
Inspiratory muscle training in severe spinal muscular atrophy: a case report.
Published in:
International Journal of Therapy & Rehabilitation, 2019, v. 26, n. 4, p. 1, doi. 10.12968/ijtr.2017.0108
By:
- Human, Anri;
- Honey, Engela;
- Morrow, Brenda
Publication type:
Article
Biallelic BRCA2 mutations in two black South African children with Fanconi anaemia.
Published in:
Familial Cancer, 2017, v. 16, n. 3, p. 441, doi. 10.1007/s10689-017-9968-y
By:
- Feben, Candice;
- Spencer, Careni;
- Lochan, Anneline;
- Laing, Nakita;
- Fieggen, Karen;
- Honey, Engela;
- Wainstein, Tasha;
- Krause, Amanda
Publication type:
Article
Pena-Shokeir syndrome: current management strategies and palliative care.
Published in:
Application of Clinical Genetics, 2018, v. 11, p. 111, doi. 10.2147/TACG.S154643
By:
- Adam, Sumaiya;
- Coetzee, Melantha;
- Honey, Engela Magdalena
Publication type:
Article
Mutation analysis and clinical profile of South African patients with Neurofibromatosis type 1 (NF1) phenotype.
Published in:
Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1331278
By:
- Mudau, Maria Mabyalwa;
- Dillon, Bronwyn;
- Smal, Clarice;
- Feben, Candice;
- Honey, Engela;
- Carstens, Nadia;
- Krause, Amanda
Publication type:
Article

Found: 13