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17 results found

no	title	author	magazine	year	volume	issue	page(s)	type
1	A balanced t(10;15) translocation in a male patient with developmental language disorder	Ercan-Sencicek, A. Gulhan		2012	55	2	p. 128-131 4 p.	article
2	Clinical and molecular cytogenetic studies in ring chromosome 5: Report of a child with congenital abnormalities	Basinko, Audrey		2012	55	2	p. 112-116 5 p.	article
3	Contradictory results in “Yq microdeletions in infertile men from Northern India” by Mittal et al. (Ann. Genet. 47 (2004) 331–337)	Saliminejad, Kioomars		2012	55	2	p. 156- 1 p.	article
4	Deletion of the AP1S2 gene in a child with psychomotor delay and hypotonia	Ballarati, Lucia		2012	55	2	p. 124-127 4 p.	article
5	Deletion of the RMGA and CHD2 genes in a child with epilepsy and mental deficiency	Capelli, Leonardo P.		2012	55	2	p. 132-134 3 p.	article
6	De novo 911 Kb interstitial deletion on chromosome 1q43 in a boy with mental retardation and short stature	Perrone, M.D.		2012	55	2	p. 117-119 3 p.	article
7	Dysmorphic features in subtelomeric 20p13 deletion excluding JAG1: A recognizable microdeletion phenotype?	Moutton, Sébastien		2012	55	2	p. 151-155 5 p.	article
8	Endocrine and anatomical findings in a case of Solitary Median Maxillary Central Incisor Syndrome	Szakszon, Katalin		2012	55	2	p. 109-111 3 p.	article
9	Hypothesis: SLC12A3 Polymorphism modifies thiazide hypersensitivity of antenatal Bartter syndrome to thiazide resistance	Mammen, Cherry		2012	55	2	p. 96-98 3 p.	article
10	Identification of a novel causative mutation in the ROR2 gene in a Lebanese family with a mild form of recessive Robinow syndrome	Mehawej, Cybel		2012	55	2	p. 103-108 6 p.	article
11	40 Mb duplication in chromosome band 5p13.1p15.33 with 800 kb terminal deletion in a foetus with mild phenotypic features	Izzo, A.		2012	55	2	p. 140-144 5 p.	article
12	1.5 Mb microdeletion in 15q24 in a patient with mild OAVS phenotype	Brun, Aurore		2012	55	2	p. 135-139 5 p.	article
13	Micro-duplications of 1q32.1 associated with neurodevelopmental delay	Olson, H.E.		2012	55	2	p. 145-150 6 p.	article
14	Phenotypic spectrum of fetal Smith–Lemli–Opitz syndrome	Quélin, Chloé		2012	55	2	p. 81-90 10 p.	article
15	Prioritized sequencing of the second exon of MYO15A reveals a new mutation segregating in a Pakistani family with moderate to severe hearing loss	Bashir, Rasheeda		2012	55	2	p. 99-102 4 p.	article
16	RASA1 analysis: Clinical and molecular findings in a series of consecutive cases	Wooderchak-Donahue, Whitney		2012	55	2	p. 91-95 5 p.	article
17	Thrombocytopenia-absent-radius syndrome in a child showing a larger 1q21.1 deletion than the one in his healthy mother, and a significant downregulation of the commonly deleted genes	Guastadisegni, Maria Corsignano		2012	55	2	p. 120-123 4 p.	article

17 results found

Koninklijke Bibliotheek - National Library of the Netherlands