2,208 results on '"Fryns, J.-P."'
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252. Posterior scalp defects in Opitz syndrome. Another symptom related to a defect in midline development
253. Adults with Williams-Beuren syndrome: evaluation of the medical, psychological and behavioral aspects
254. Full 69,XXY triploidy and sex-reversal: a further example of true hermaphrodism associated with multiple malformations
255. Structural abnormalities of the Y-chromosome and craniosynostosis
256. De novo 46,XX, dir dup (11)(q13.3→q14.2) in a patient with mental retardation, congenital cardiopathy and thrombopenia
257. Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant
258. Mental retardation with pterygia, shortness and distinct facial appearance A new MCA/MR syndrome
259. Trisomy (18q) and tetrasomy (18p) resulting from isochromosome formation
260. The hand-foot-genital syndrome: on the variable expression in affected males
261. An asymmetric type of chondrodysplasia in an adult male
262. Effect of balanced X/autosome translocations on sexual and physical development
263. Partial 8p trisomy due to interstitial duplication: karyotype: 46, XX, inv dup(8) (p21.1→p22)
264. Identical psychological profile and behaviour pattern in different types of mutation in the FMR-1 region
265. Isolated mesomelic shortening of the forearm in father and daughter: a new entity in the group of mesomelic dysplasias
266. Distal arthrogryposis with autosomal dominant inheritance and reduced penetrance in females: the Gordon syndrome
267. MCA/MR syndrome with features of Hallermann-Streiff syndrome and 4q deficiency/ 14q duplication
268. Association of Meckel syndrome with M-anisosplenia in one patient
269. Early clinical signs in Coffin-Lowry syndrome
270. The Coffin-Siris syndrome: Report of a family and further delineation
271. The psychological profile of the fragile X syndrome
272. The Borjeson-Fbrssman-Lehmann syndrome
273. Anomalous cerebral venous drainage in Aarskog syndrome
274. Frontonasal malformation and reciprocal translocation t(15;22)(q22;q13)
275. Progressive pseudorheumatoid arthritis of childhood (PPAC) and normal adult height
276. Fertility in patients with X chromosome deletions
277. Congenital scalp defect, distal limb reduction anomalies, right spastic hemiplegia and hypoplasia of the left arteria cerebri media: Further evidence that interruption of early embryonic blood supply may result in Adams-Oliver (plus) syndrome
278. Normal testicular histology in a mid-trimester 49,XXXXY fetus
279. Marden-Walker syndrome versus isolated distal arthrogryposis: Evidence that both conditions may be variable manifestations of the same mutated gene
280. Cowden syndrome: report of a large family with macrocephaly and increased severity of signs in subsequent generations
281. A genetic-diagnostic survey in an institutionalized population of 173 severely mentally retarded patients
282. Variable expression of the popliteal pterygium syndrome in two 3-generation families
283. Gonadoblastoma and Y-chromosome fluorescence
284. Primary autosomal recessive microcephaly: MCPH5 maps to 1q25-q32.
285. Molecular cloning of Xp11 breakpoints in two unrelated mentally retarded females with X; autosome translocations
286. The facial dysmorphy in the newly recognised microdeletion 2p15-p16.1 refined to a 570 kb region in 2p15
287. Submicroscopic chromosomal imbalances detected by array-CGH are a frequent cause of congenital heart defects in selected patients
288. Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome)
289. Genotype-phenotype correlation in 21 patients with Wolf-Hirschhorn syndrome using high resolution array comparative genome hybridisation (CGH)
290. The C20orf133 gene is disrupted in a patient with Kabuki syndrome
291. Molecular characterisation of a mosaicism with a complex chromosome rearrangement: evidence for coincident chromosome healing by telomere capture and neo-telomere formation
292. Further evidence for the location of the BPES gene at 3q2
293. Assuétudes: motivation au changement et prise en charge semi-ambulatoire
294. A molecular and clinical study of Larsen syndrome caused by mutations in FLNB
295. Single-cell chromosomal imbalances detection by array CGH
296. Molecular karyotyping of patients with MCA/MR: the blurred boundary between normal and pathogenic variation
297. Molecular cytogenetic characterization of a constitutional complex intrachromosomal 4q rearrangement in a patient with multiple congenital anomalies
298. Screening of ARX in mental retardation families: consequences for the strategy of molecular diagnosis
299. Novel GJA1 mutations in patients with oculo-dento-digital dysplasia (ODDD)
300. The del(2)(q32.2q33) deletion syndrome defined by clinical and molecular characterization of four patients
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