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Hydrolethalus syndrome in a non-Finnish family: confirmation of the entity and early prenatal diagnosis.
de Ravel TJ, van der Griendt MC, Evan P, Wright CA. de Ravel TJ, et al. Prenat Diagn. 1999 Mar;19(3):279-81. doi: 10.1002/(sici)1097-0223(199903)19:3<279::aid-pd518>3.0.co;2-l. Prenat Diagn. 1999. PMID: 10210131
Trisomy 18 with total cranio-rachischisis and thoraco-abdominoschisis.
Donaldson SJ, Wright CA, de Ravel TJ. Donaldson SJ, et al. Among authors: de ravel tj. Prenat Diagn. 1999 Jun;19(6):580-2. Prenat Diagn. 1999. PMID: 10416978
The Pallister-Killian syndrome is reliably diagnosed by FISH on buccal mucosa.
Manasse BF, Lekgate N, Pfaffenzeller WM, de Ravel TJ. Manasse BF, et al. Among authors: de ravel tj. Clin Dysmorphol. 2000 Jul;9(3):163-5. doi: 10.1097/00019605-200009030-00002. Clin Dysmorphol. 2000. PMID: 10955474
Trichorhinophalangeal syndrome type II: case report.
Lambie L, de Ravel TJ. Lambie L, et al. Among authors: de ravel tj. East Afr Med J. 2000 Jan;77(1):57-9. East Afr Med J. 2000. PMID: 10944842
Possible isochromosome 22 leading to trisomy 22.
Manasse BF, Pfaffenzeller WM, Gurtunca N, de Ravel TJ. Manasse BF, et al. Among authors: de ravel tj. Am J Med Genet. 2000 Dec 18;95(5):411-4. doi: 10.1002/1096-8628(20001218)95:5<411::aid-ajmg1>3.0.co;2-q. Am J Med Genet. 2000. PMID: 11146458
Brachydactyly type B with its distinct facies and 'Cooks syndrome' are the same entity.
de Ravel TJ, Berkowitz DE, Wagner JM, Jenkins T. de Ravel TJ, et al. Clin Dysmorphol. 1999 Jan;8(1):41-5. Clin Dysmorphol. 1999. PMID: 10327250
Tetra-amelia and splenogonadal fusion in Roberts syndrome.
de Ravel TJ, Seftel MD, Wright CA. de Ravel TJ, et al. Am J Med Genet. 1997 Jan 20;68(2):185-9. doi: 10.1002/(sici)1096-8628(19970120)68:2<185::aid-ajmg13>3.0.co;2-q. Am J Med Genet. 1997. PMID: 9028456
Lethal neonatal mandibuloacral dysplasia.
Seftel MD, Wright CA, Po PL, de Ravel TJ. Seftel MD, et al. Among authors: de ravel tj. Am J Med Genet. 1996 Dec 2;66(1):52-4. doi: 10.1002/(SICI)1096-8628(19961202)66:1<52::AID-AJMG11>3.0.CO;2-P. Am J Med Genet. 1996. PMID: 8957511
The Pallister-Killian syndrome in an African individual.
Woodman BF, Jordan MA, Moller LI, Cartwright JD, De Ravel TJ. Woodman BF, et al. Among authors: de ravel tj. Genet Couns. 1995;6(1):33-6. Genet Couns. 1995. PMID: 7794559 Review.
Chimerism in black southern African patients with true hermaphroditism 46,XX/47XY,+21 and 46,XX/46,XY.
Ramsay M, Pfaffenzeller W, Kotze E, Bhengu L, Essop F, de Ravel T. Ramsay M, et al. Ann N Y Acad Sci. 2009 Jan;1151:68-76. doi: 10.1111/j.1749-6632.2008.03570.x. Ann N Y Acad Sci. 2009. PMID: 19154517
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