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What importance do donors and recipients attribute to the nuclear DNA-related genetic heritage of oocyte donation?
Hum Reprod. 2024 Apr 3;39(4):770-778. doi: 10.1093/humrep/deae030.
Hum Reprod. 2024.
PMID: 38420661
Expanding the phenotype of GTF2E2-associated trichothiodystrophy.
Sperelakis-Beedham B, Ruaud L, Vial Y, Rachid M, Ageorges F, Goujon L, Verloes A, Tabet AC, Bourrat E, Lévy J.
Sperelakis-Beedham B, et al.
J Eur Acad Dermatol Venereol. 2024 Mar;38(3):e222-e226. doi: 10.1111/jdv.19545. Epub 2023 Oct 16.
J Eur Acad Dermatol Venereol. 2024.
PMID: 37793898
No abstract available.
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Antenatal ultrasound features of isolated recurrent copy number variation in 7q11.23 (Williams syndrome and 7q11.23 duplication syndrome).
Courdier C, Boudjarane J, Malan V, Muti C, Sperelakis-Beedham B, Odent S, Jaillard S, Quelin C, Le Caignec C, Patat O, Dubucs C, Julia S, Schluth-Bolard C, Goumy C, Redon S, Gaillard JB, Huynh MT, Dupont C, Tabet AC, Cogan G, Vialard F, Dard R, Jedraszak G, Jobic F, Lefebvre M, Quenum G, Inai S, Rama M, Sauvestre F, Coatleven F, Thomas J, Rooryck C.
Courdier C, et al. Among authors: sperelakis beedham b.
Prenat Diagn. 2023 Jun;43(6):734-745. doi: 10.1002/pd.6340. Epub 2023 Mar 23.
Prenat Diagn. 2023.
PMID: 36914926
Free article.
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AQP5, a second gene at play with CFTR in aquagenic palmoplantar keratoderma.
Sperelakis-Beedham B, Lopez M, Bourrat E, Gaitch N, Houriez F, Martinez B, Fajac I, Burgel PR, Hickman G, Audrézet MP, Gonde D, Cabet F, Gerfaud-Valentin M, Nove-Josserand R, Raynal C, Pagin A, Reboul MP, de Becdelièvre A, Bienvenu T, Callebaut I, Girodon E.
Sperelakis-Beedham B, et al.
J Eur Acad Dermatol Venereol. 2023 May;37(5):e654-e657. doi: 10.1111/jdv.18869. Epub 2023 Jan 24.
J Eur Acad Dermatol Venereol. 2023.
PMID: 36645858
No abstract available.
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[Genetics of complex and syndromic palmoplantar keratoderma].
Sperelakis-Beedham B, Lopez M, Girodon E, Hickman G, Bourrat E, Bienvenu T.
Sperelakis-Beedham B, et al.
Ann Biol Clin (Paris). 2021 Dec 1;79(6):551-565. doi: 10.1684/abc.2021.1688.
Ann Biol Clin (Paris). 2021.
PMID: 34961738
Review.
French.
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Utility of genetic testing for prenatal presentations of hypophosphatasia.
Sperelakis-Beedham B, Taillandier A, Domingues C, Guberto M, Colin E, Porquet-Bordes V, Rothenbuhler A, Salles JP, Wenkert D, Zankl A, Muti C, Bacrot S, Simon-Bouy B, Mornet E.
Sperelakis-Beedham B, et al.
Mol Genet Metab. 2021 Mar;132(3):198-203. doi: 10.1016/j.ymgme.2021.01.009. Epub 2021 Jan 27.
Mol Genet Metab. 2021.
PMID: 33549410
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