Výsledky vyhledávání - "VAN RAVENSWAAIJ, C"

Erratum:A novel microdeletion, del(2)(q22.3q23.3) in a mentally retarded patient, detected by array-based comparative genomic hybridization (Clinical Genetics (2004) vol. 65 (429-432))

Autor: Koolen, D. A., Vissers, L. E.L.M., Nillesen, W., Smeets, D., Van Ravenswaaij, C. M.A., Sistermans, E. A., Veltman, J. A., de Vries, B. D.A.

Publikováno v: Koolen, D A, Vissers, L E L M, Nillesen, W, Smeets, D, Van Ravenswaaij, C M A, Sistermans, E A, Veltman, J A & de Vries, B D A 2004, ' Erratum : A novel microdeletion, del(2)(q22.3q23.3) in a mentally retarded patient, detected by array-based comparative genomic hybridization (Clinical Genetics (2004) vol. 65 (429-432)) ', Clinical Genetics, vol. 66, no. 1, pp. 81 . https://doi.org/10.1111/j.0009-9163.2004.00299.x
Clinical Genetics, 66(1). Wiley-Blackwell

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::e0e301fc4b42658b11240eb106d6782f
https://research.vumc.nl/en/publications/a10d6181-3d1c-4ee0-814c-cb2be5735a70

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A novel microdeletion, del(2)(q22.3q23.3) in a mentally retarded patient, detected by array-based comparative genomic hybridization

Autor: Koolen, D. A., Vissers, L. E.L.M., Nillesen, W., Smeets, D., van Ravenswaaij, C. M.A., Sistermans, E. A., Veltman, J. A., de Vries, Bert D.A.

Publikováno v: Clinical Genetics, 65, 429-32
Clinical Genetics, 65, 5, pp. 429-32
Clinical Genetics, 65(5), 429-432. Wiley-Blackwell
Koolen, D A, Vissers, L E L M, Nillesen, W, Smeets, D, van Ravenswaaij, C M A, Sistermans, E A, Veltman, J A & de Vries, B D A 2004, ' A novel microdeletion, del(2)(q22.3q23.3) in a mentally retarded patient, detected by array-based comparative genomic hybridization ', Clinical Genetics, vol. 65, no. 5, pp. 429-432 . https://doi.org/10.1111/j.0009-9163.2004.00245.x

Contains fulltext : 57198.pdf (Publisher’s version ) (Closed access)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::3e9c06797053098773bc600fcfb3ca50
http://hdl.handle.net/2066/57198

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Caratteristiche dismorfiche in 19 pazienti con Trisomia 11q parziale

Autor: Perrotta, C. S., Pramparo, T, Circo, G, Licata, F, VAN RAVENSWAAIJ, C, Zuffardi, O, Mattina, Teresa

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______4731::2d5cfd7156b868c5eb3b8eb2b2cd41ba
http://hdl.handle.net/20.500.11769/103306

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Akademický článek

Ocular manifestations of CHARGE syndrome in a pediatric cohort with genotype/phenotype analysis.

Autor: Kanwar K; Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA., Bashey S; Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA., Bohnsack BL; Department of Ophthalmology, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.; Division of Ophthalmology, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA., Drackley A; Division of Ophthalmology, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA., Ing A; Division of Ophthalmology, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA., Rahmani S; Division of Ophthalmology, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA., Ranaivo HR; Division of Ophthalmology, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA., McMullen P; Division of Ophthalmology, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA., Skol A; Division of Ophthalmology, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA., Yap K; Division of Ophthalmology, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA., Allegretti V; Division of Ophthalmology, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA., Rossen JL; Department of Ophthalmology, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.; Division of Ophthalmology, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Aug; Vol. 194 (8), pp. e63618. Date of Electronic Publication: 2024 Apr 10.

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Akademický článek

Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA).

Autor: Koolen, D. A., Nillesen, W. M., Versteeg, M. H. A., Merkx, G. F. M., Knoers, N. V. A. M., Kets, M., Vermeer, S., van Ravenswaaij, C. M. A., de Kovel, C. G., Brunner, H. G., Smeets, D., de Vries, B. B. A., Sistermans, E. A.

Publikováno v: Journal of Medical Genetics; Dec2004, Vol. 41 Issue 12, p892-899, 8p, 2 Charts, 2 Graphs

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Akademický článek

Monodactyly in a patient with CHARGE syndrome: An additional case report.

Autor: Serigatto HR; Hospital for Rehabilitation of Craniofacial Anomalies, University of São Paulo, São Paulo, Brazil., Zechi-Ceide RM; Hospital for Rehabilitation of Craniofacial Anomalies, University of São Paulo, São Paulo, Brazil., Parizotto I; Hospital for Rehabilitation of Craniofacial Anomalies, University of São Paulo, São Paulo, Brazil., Kokitsu-Nakata NM; Hospital for Rehabilitation of Craniofacial Anomalies, University of São Paulo, São Paulo, Brazil.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Jun; Vol. 194 (6), pp. e63561. Date of Electronic Publication: 2024 Feb 14.

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Akademický článek

Maternal CHD7 gonosomal mosaicism in a fetus with CHARGE syndrome.

Autor: Bai T; Department of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, China.; Key Laboratory of Birth Defects and Related Diseases of Women and Children, Sichuan University, Ministry of Education, Chengdu, China.; Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Chengdu, China., Shen Y; Department of Obstetrics/Gynecology, Joint Laboratory of Reproductive Medicine (SCU-CUHK), Key Laboratory of Obstetric, Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu, China., Yang Y; Department of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, China.; Key Laboratory of Birth Defects and Related Diseases of Women and Children, Sichuan University, Ministry of Education, Chengdu, China., Dai S; Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Chengdu, China., Liu H; Department of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, China.; Key Laboratory of Birth Defects and Related Diseases of Women and Children, Sichuan University, Ministry of Education, Chengdu, China.; Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Chengdu, China.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Apr; Vol. 194 (4), pp. e63491. Date of Electronic Publication: 2023 Dec 06.

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