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3. Angelman syndrome: a review of clinical and genetic aspects. Laan LA; v Haeringen A; Brouwer OF Clin Neurol Neurosurg; 1999 Sep; 101(3):161-70. PubMed ID: 10536901 [TBL] [Abstract][Full Text] [Related]
4. [Molecular advances in "non-mendelian" genetics. Implications for pediatrics]. Pérez Jurado LA An Esp Pediatr; 1993 Jun; 38(6):479-87. PubMed ID: 8368674 [No Abstract] [Full Text] [Related]
5. [Rare disabilities--less known syndromes. A challenge for neuropsychiatric rehabilitation]. Gillberg C; Ehlers S; Kyllerman M; Uvebrant P Lakartidningen; 1999 Apr; 96(15):1824-6, 1829-30. PubMed ID: 10319647 [No Abstract] [Full Text] [Related]
6. Trisomy 18-Edwards syndrome: a report of three patients. Ejiwumni AB; Msamati BC Cent Afr J Med; 1993 May; 39(5):105-9. PubMed ID: 8131193 [No Abstract] [Full Text] [Related]
7. Characterisation of a new rare fragile site easily confused with the fragile X. Sutherland GR; Baker E Hum Mol Genet; 1992 May; 1(2):111-3. PubMed ID: 1301146 [TBL] [Abstract][Full Text] [Related]
8. Angelman syndrome: correlations between epilepsy phenotypes and genotypes. Minassian BA; DeLorey TM; Olsen RW; Philippart M; Bronstein Y; Zhang Q; Guerrini R; Van Ness P; Livet MO; Delgado-Escueta AV Ann Neurol; 1998 Apr; 43(4):485-93. PubMed ID: 9546330 [TBL] [Abstract][Full Text] [Related]
9. Partial trisomy 13 in an infant with a mild phenotype: application of fluorescence in situ hybridization in cytogenetic syndromes. Begovic D; Hitrec V; Lasan R; Letica L; Baric I; Sarnavka V; Galic S Croat Med J; 1998 Jun; 39(2):212-5. PubMed ID: 9575279 [TBL] [Abstract][Full Text] [Related]
10. [Screening for fragile X syndrome in handicapped boys]. Steinbicker V; Missbach D; Goetz P; Subrt I; Seemanová E Kinderarztl Prax; 1992 Aug; 60(6):163-7. PubMed ID: 1405391 [TBL] [Abstract][Full Text] [Related]
11. Recent advances in molecular cytogenetics: fluorescent in situ hybridization. Mark HF R I Med; 1994 Nov; 77(11):377-81. PubMed ID: 7812054 [No Abstract] [Full Text] [Related]
15. Positive predictive value estimates for cell-free noninvasive prenatal screening from data of a large referral genetic diagnostic laboratory. Petersen AK; Cheung SW; Smith JL; Bi W; Ward PA; Peacock S; Braxton A; Van Den Veyver IB; Breman AM Am J Obstet Gynecol; 2017 Dec; 217(6):691.e1-691.e6. PubMed ID: 29032050 [TBL] [Abstract][Full Text] [Related]
16. [Neurogenetic dialogue illustrated by the "pantin hilare" of angelman syndrome]. Dan B Bull Mem Acad R Med Belg; 2010; 165(7-9):327-33; discussion 334-7. PubMed ID: 21513093 [TBL] [Abstract][Full Text] [Related]
17. Recently recognized chromosomal defects of clinical importance. Pembrey M; Baraitser M Postgrad Med J; 1986 Feb; 62(724):131-42. PubMed ID: 3540928 [TBL] [Abstract][Full Text] [Related]
18. Epilepsy and EEG findings in males with fragile X syndrome. Musumeci SA; Hagerman RJ; Ferri R; Bosco P; Dalla Bernardina B; Tassinari CA; De Sarro GB; Elia M Epilepsia; 1999 Aug; 40(8):1092-9. PubMed ID: 10448821 [TBL] [Abstract][Full Text] [Related]
19. [Epilepsy in chromosome aberrations]. Bahi-Buisson N; Ville D; Eisermann M; Plouin P; Kaminska A; Chiron C Arch Pediatr; 2005 Apr; 12(4):449-58. PubMed ID: 15808438 [TBL] [Abstract][Full Text] [Related]
20. [Fetal chromosome abnormalities diagnosed by chorionic villi sampling]. Gardó S; Bajnóczky K; Nagy M; Nagy S Orv Hetil; 1993 Oct; 134(44):2427-30. PubMed ID: 8233461 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]