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                             39 results found
no title author magazine year volume issue page(s) type
1 A familial syndromal form of omphalocele Port-Lis, Marylin
 2011
 54 3 p. 337-340
4 p.
 article
2 A founder effect at the EPCAM locus in Congenital Tufting Enteropathy in the Arabic Gulf Salomon, Julie
 2011
 54 3 p. 319-322
4 p.
 article
3 A 10 Mb duplication in chromosome band 5q31.3–5q33.1 associated with late-onset lipodystrophy, ichthyosis, epilepsy and glomerulonephritis Faguer, Stanislas
 2011
 54 3 p. 310-313
4 p.
 article
4 A 1Mb-sized microdeletion Xq26.2 encompassing the GPC3 gene in a fetus with Simpson–Golabi–Behmel syndrome Weichert, Jan
 2011
 54 3 p. 343-347
5 p.
 article
5 Analysis of FOXF1 and the FOX gene cluster in patients with VACTERL association Agochukwu, Nneamaka B.
 2011
 54 3 p. 323-328
6 p.
 article
6 A new 17p13.3 microduplication including the PAFAH1B1 and YWHAE genes resulting from an unbalanced X;17 translocation Hyon, Capucine
 2011
 54 3 p. 287-291
5 p.
 article
7 A novel frame shift mutation in the PQBP1 gene identified in a Tunisian family with X-linked mental retardation Rejeb, Imen
 2011
 54 3 p. 241-246
6 p.
 article
8 A novel mutation in TNNT3 associated with Sheldon–Hall syndrome in a Chinese family with vertical talus Zhao, Ning
 2011
 54 3 p. 351-353
3 p.
 article
9 An unusual chromosome 22q11 deletion associated with an apparent complementary ring chromosome in a phenotypically normal woman Toutain, Jérôme
 2011
 54 3 p. 292-294
3 p.
 article
10 A proposal for classification of entities combining vascular malformations and deregulated growth Oduber, Charlène E.U.
 2011
 54 3 p. 262-271
10 p.
 article
11 Array-CGH characterization of a prenatally detected de novo 46,X,der(Y)t(X;Y)(p22.3;q11.2) in a male fetus Palka, Chiara
 2011
 54 3 p. 333-336
4 p.
 article
12 Care for patients with ultra-rare disorders Hennekam, Raoul CM.
 2011
 54 3 p. 220-224
5 p.
 article
13 Characterization of sSMC by FISH and molecular techniques Sheth, Frenny
 2011
 54 3 p. 247-255
9 p.
 article
14 Circumferential skin creases, cleft palate, typical face, intellectual disability and growth delay: “Circumferential skin creases Kunze type” Wouters, Leen
 2011
 54 3 p. 236-240
5 p.
 article
15 Clinical report: An interstitial deletion of 16p13.11 detected by array CGH in a patient with infantile spasms Balasubramanian, M.
 2011
 54 3 p. 314-318
5 p.
 article
16 Cockayne syndrome caused by paternally inherited 5Mb deletion of 10q11.2 and a frameshift mutation of ERCC6 Ghai, Shailly Jain
 2011
 54 3 p. 272-276
5 p.
 article
17 De novo deletion of chromosome 2q24.2 region in a mentally retarded boy with muscular hypotonia Magri, Chiara
 2011
 54 3 p. 361-364
4 p.
 article
18 De novo mosaic ring chromosome 18 in a child with mental retardation, epilepsy and immunological problems Lo-Castro, Adriana
 2011
 54 3 p. 329-332
4 p.
 article
19 Diagnosis of distal 22q11.2 deletion syndrome in a patient with a teratoid/rhabdoid tumour Beddow, R.A.
 2011
 54 3 p. 295-298
4 p.
 article
20 Diploid/triploid mosaicism: A rare event or an under-diagnosed syndrome? Boonen, Susanne E.
 2011
 54 3 p. 374-375
2 p.
 article
21 Editorial Board 2011
 54 3 p. i-
1 p.
 article
22 Lung disease in FLNA mutation: Confirmatory report de Wit, M.C.Y.
 2011
 54 3 p. 299-300
2 p.
 article
23 21 Mb deletion in chromosome band 13q22.2q32.1 associated with mild/moderate psychomotor retardation, growth hormone insufficiency, short neck, micrognathia, hypotonia, dysplastic ears and other dysmorphic features Grigori, Panagiota
 2011
 54 3 p. 365-368
4 p.
 article
24 3.7 Mb tandem microduplication in chromosome 5p13.1-p13.2 associated with developmental delay, macrocephaly, obesity, and lymphedema. Further characterization of the dup(5p13) syndrome Oexle, Konrad
 2011
 54 3 p. 225-230
6 p.
 article
25 5.78 Mb terminal deletion of chromosome 15q in a girl, evaluation of NR2F2 as candidate gene for congenital heart defects Nakamura, Eiki
 2011
 54 3 p. 354-356
3 p.
 article
26 Microdeletions of chromosome 7p21, including TWIST1, associated with significant microcephaly, facial dysmorphism, and short stature Busche, Andreas
 2011
 54 3 p. 256-261
6 p.
 article
27 Novel deletion encompassing exons 5–12 of the UBE3A gene in a girl with Angelman syndrome Beleza-Meireles, Ana
 2011
 54 3 p. 348-350
3 p.
 article
28 Novel mutations of the MLC1 gene in Turkish patients Yüzbaşioğlu, Ayşe
 2011
 54 3 p. 281-283
3 p.
 article
29 Prenatal and postnatal growth retardation, microcephaly, developmental delay, and pigmentation abnormalities: Naegeli syndrome, dyskeratosis congenita, poikiloderma Clericuzio type, or separate entity? Belligni, Elga F.
 2011
 54 3 p. 231-235
5 p.
 article
30 17q21.31 microdeletion in a patient with pituitary stalk interruption syndrome El Chehadeh-Djebbar, Salima
 2011
 54 3 p. 369-373
5 p.
 article
31 15q11.2 microdeletion – Seven new patients with delayed development and/or behavioural problems von der Lippe, C.
 2011
 54 3 p. 357-360
4 p.
 article
32 Search of somatic GATA4 and NKX2.5 gene mutations in sporadic septal heart defects Salazar, Marleny
 2011
 54 3 p. 306-309
4 p.
 article
33 Severe lysosomal storage disease of liver in del(1)(p36): A new presentation Haimi, Motti
 2011
 54 3 p. 209-213
5 p.
 article
34 SNP-array based whole genome homozygosity mapping: A quick and powerful tool to achieve an accurate diagnosis in LGMD2 patients Papić, Lea
 2011
 54 3 p. 214-219
6 p.
 article
35 Solitary median maxillary central incisor and congenital nasal pyriform aperture stenosis combined with asymmetric crying facies and postaxial lower limb reduction defects: A unique combination of features Van Dijk, F.S.
 2011
 54 3 p. 284-286
3 p.
 article
36 The face of Ulnar Mammary syndrome? Joss, Shelagh
 2011
 54 3 p. 301-305
5 p.
 article
37 Transient aplastic anemia in Down’s syndrome – A rare association Gathwala, Geeta
 2011
 54 3 p. 341-342
2 p.
 article
38 Tyrosinemia type II (Richner–Hanhart syndrome): A new mutation in the TAT gene Čulic, Vida
 2011
 54 3 p. 205-208
4 p.
 article
39 Written information to patients in clinical genetics: What’s the impact? Cassini, C.
 2011
 54 3 p. 277-280
4 p.
 article
                             39 results found
 
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