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Results 1 to 25 of 4287

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A novel deletion partly removing the AVP gene causes autosomal recessive inheritance of early-onset neurohypophyseal diabetes insipidusCHRISTENSEN, J. H; KVISTGAARD, H; KNUDSEN, J et al.Clinical genetics. 2013, Vol 83, Num 1, pp 44-52, issn 0009-9163, 9 p.Article

A puzzle over several decades: eye anomalies with FRAS1 and STRA6 mutations in the same familyNG, W. Y; PASUTTO, F; BARDAKJIAN, T. M et al.Clinical genetics. 2013, Vol 83, Num 2, pp 162-168, issn 0009-9163, 7 p.Article

Double heterozygous mutations of MITF and PAX3 result in Waardenburg syndrome with increased penetrance in pigmentary defectsYANG, T; LI, X; LI, Y et al.Clinical genetics. 2013, Vol 83, Num 1, pp 78-82, issn 0009-9163, 5 p.Article

High frequency of GJA12/GJC2 mutations in Turkish patients with Pelizaeus ― Merzbacher diseaseBILIR, B; YAPICI, Z; YALCINKAYA, C et al.Clinical genetics. 2013, Vol 83, Num 1, pp 66-72, issn 0009-9163, 7 p.Article

MODY type 2 P59S GCK mutant: founder effect in South of ItalyDELVECCHIO, M; LUDOVICO, O; BELLACCHIO, E et al.Clinical genetics. 2013, Vol 83, Num 1, pp 83-87, issn 0009-9163, 5 p.Article

Novel WDR35 mutations in patients with cranioectodermal dysplasia (Sensenbrenner syndrome)HOFFER, J. L; FRYSSIRA, H; KONSTANTINIDOU, A. E et al.Clinical genetics. 2013, Vol 83, Num 1, pp 92-95, issn 0009-9163, 4 p.Article

Paraspinal ganglioneuroma in the proband of a large family with mild cutaneous manifestations of NF1, carrying a deep NF1 intronic mutationKANNU, P; NOUR, M; IRVING, M et al.Clinical genetics. 2013, Vol 83, Num 2, pp 191-194, issn 0009-9163, 4 p.Article

Neurodevelopmental consequences of maternal distress: what do we really know?SCHUURMANS, C; KURRASCH, D. M.Clinical genetics. 2013, Vol 83, Num 2, pp 108-117, issn 0009-9163, 10 p.Article

5-Oxoprolinase deficiency: report of the first human OPLAH mutationALMAGHLOUTH, I. A; MOHAMED, J. Y; AL-AMOUDI, M et al.Clinical genetics. 2012, Vol 82, Num 2, pp 193-196, issn 0009-9163, 4 p.Article

An intronic mutation causes severe LGMD2A in a large inbred family belonging to a genetic isolate in the AlpsFANIN, M; BENEDICENTI, F; FRITEGOTTO, C et al.Clinical genetics. 2012, Vol 82, Num 6, pp 601-602, issn 0009-9163, 2 p.Article

Characterization of interactions between naturally mutated forms of the TIN2 protein and its known protein partners of the shelterin complexXIN, Z.-T; LY, H.Clinical genetics. 2012, Vol 81, Num 3, pp 301-302, issn 0009-9163, 2 p.Article

Detection of BRCA1/2 mutations in breast cancer patients from Thailand and PakistanAHMAD, J; LE CALVEZ-KELM, F; SINILNIKOVA, O et al.Clinical genetics. 2012, Vol 82, Num 6, pp 594-598, issn 0009-9163, 5 p.Article

Mutational spectrum in eight Korean patients with 3-methylcrotonyl-CoA carboxylase deficiencyCHO, S. Y; PARK, H.-D; CHOI, E. W et al.Clinical genetics. 2012, Vol 81, Num 1, pp 96-98, issn 0009-9163, 3 p.Article

Two novel large ANKH deletion mutations in sporadic cases with craniometaphyseal dysplasiaDUTRA, E. H; CHEN, I.-P; MCGREGOR, T. L et al.Clinical genetics. 2012, Vol 81, Num 1, pp 93-95, issn 0009-9163, 3 p.Article

A novel homozygous missense mutation in WNT10B in familial split-hand/foot malformationKHAN, S; BASIT, S; ZIMRI, F. K et al.Clinical genetics. 2012, Vol 82, Num 1, pp 48-55, issn 0009-9163, 8 p.Article

Analysis of phenotype and genotype information for the diagnosis of Marfan syndromeSHEIKHZADEH, S; KADE, C; ROBINSON, P. N et al.Clinical genetics. 2012, Vol 82, Num 3, pp 240-247, issn 0009-9163, 8 p.Article

Clinical and molecular findings of 13 families from Saudi Arabia and a family from Sudan with homocystinuriaZAIDI, She; FAIYAZ-UI-HAQUE, M; SHUAIB, T et al.Clinical genetics. 2012, Vol 81, Num 6, pp 563-570, issn 0009-9163, 8 p.Article

Clinical phenotype variability in patients with hereditary spastic paraplegia type 5 associated with CYP7B1 mutationsARNOLDI, A; CRIMELLA, C; BASSI, M. T et al.Clinical genetics. 2012, Vol 81, Num 2, pp 150-157, issn 0009-9163, 8 p.Article

Clinical, biochemical and molecular characterization of Cystinuria in a cohort of 12 patientsBARBOSA, M; LOPES, A; FORTUNA, A. M et al.Clinical genetics. 2012, Vol 81, Num 1, pp 47-55, issn 0009-9163, 9 p.Article

Drosophila as a tool for studying the conserved genetics of painMILINKEVICIUTE, G; GENTILE, C; GREGORY NEELY, G et al.Clinical genetics. 2012, Vol 82, Num 4, pp 359-366, issn 0009-9163, 8 p.Article

Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA geneFERRI, L; GUIDO, C; ZAMPETTI, A et al.Clinical genetics. 2012, Vol 81, Num 3, pp 224-233, issn 0009-9163, 10 p.Article

High frequency of autosomal-recessive DFNB59 hearing loss in an isolated Arab population in IsraelBORCK, G; RAINSHTEIN, L; BASEL-VANAGAITE, L et al.Clinical genetics. 2012, Vol 82, Num 3, pp 271-276, issn 0009-9163, 6 p.Article

Identification of an AluY -mediated deletion of exon 5 in the CPOX gene by MLPA analysis in patients with hereditary coproporphyriaBARBARO, M; KOTAJÄRVI, M; HARPER, P et al.Clinical genetics. 2012, Vol 81, Num 3, pp 249-256, issn 0009-9163, 8 p.Article

JAG1 mutations are found in approximately one third of patients presenting with only one or two clinical features of Alagille syndromeGUEGAN, K; STALS, K; DAY, M et al.Clinical genetics. 2012, Vol 82, Num 1, pp 33-40, issn 0009-9163, 8 p.Article

Management of inherited thrombophilia: guide for genetics professionalsVARGA, E. A; KUJOVICH, J. L.Clinical genetics. 2012, Vol 81, Num 1, pp 7-17, issn 0009-9163, 11 p.Article

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