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Clinical Genetics Volume 76 Issue 6

2012
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2011
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2010
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2009
- Volume 76
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2008
- Volume 74
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2007
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1994
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1993
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1992
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1991
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1990
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1989
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1987
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1986
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1984
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1983
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1982
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1981
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1980
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1979
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1978
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1977
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1976
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1975
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1974
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1973
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1972
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1971
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1970
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Phenotype and genotype in females with POU3F4 mutations

Marlin, S; Moizard, MP; David, A; Chaissang, N; Raynaud, M; Jonard, L; Feldmann, D; Loundon, N; Denoyelle, F; Toutain, A

Follow Clinical Genetics , Volume 76 (6)
Wiley – Dec 1, 2009
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General practitioners' attitudes to assessment of genetic risk of common disorders in routine primary care

McCahon, D; Holder, R; Metcalfe, A; Clifford, S; Gill, P; Cole, T; Sleightholme, HV; Wilson, S

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Sex chromosome sequencing: X-citing findings in mental retardation

Kumar, RA

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Noonan syndrome and neurofibromatosis type I in a family with a novel mutation in NF1

Nyström, AM; Ekvall, S; Allanson, J; Edeby, C; Elinder, M; Holmström, G; Bondeson, ML; Annerén, G

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Screening and instability of FMR1 alleles in a prospective sample of 24,449 mother–newborn pairs from the general population

Lévesque, S; Dombrowski, C; Morel, M-L; Rehel, R; Côté, J-S; Bussières, J; Morgan, K; Rousseau, F

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A novel missense mutation in the HAX1 gene in severe congenital neutropenia patients (Kostmann disease)

Faiyaz-Ul-Haque, M; Al-Jefri, A; Abalkhail, HA; Toulimat, M; Al-Muallimi, MA; Pulicat, MS; Gaafar, A; Alaiya, AA; Al-Dayel, F; Peltekova, I; Zaidi, SHE

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Novel PORCN mutations in focal dermal hypoplasia

Froyen, G; Govaerts, K; Van Esch, H; Verbeeck, J; Tuomi, M-L; Heikkilä, H; Torniainen, S; Devriendt, K; Fryns, J-P; Marynen, P; Järvelä, I; Ala-Mello, S

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Bilateral frontoparietal polymicrogyria (BFPP) syndrome secondary to a 16q12.1-q21 chromosome deletion involving GPR56 gene

Borgatti, Renato; Marelli, Susan; Bernardini, Laura; Novelli, Antonio; Cavallini, Anna; Tonelli, Alessandra; Bassi, Maria Teresa; Dallapiccola, Bruno

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CFTR mutations in cystic fibrosis patients from Murcia region (southeastern Spain): implications for genetic testing

Moya-Quiles, MR; Mondéjar-López, P; Pastor-Vivero, MD; González-Gallego, I; Juan-Fita, MJ; Egea-Mellado, JM; Carbonell, P; Casals, T; Fernández-Sánchez, A; Sánchez-Solís, M; Glover, G

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The ryanodine receptor type 1 gene variants in African American men with exertional rhabdomyolysis and malignant hyperthermia susceptibility

Sambuughin, N; Capacchione, J; Blokhin, A; Bayarsaikhan, M; Bina, S; Muldoon, S

Follow Clinical Genetics , Volume 76 (6)
Wiley – Dec 1, 2009

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Clinical Genetics Volume 76 Issue 6

1 - 10 of 14 articles

Marlin, S; Moizard, MP; David, A; Chaissang, N; Raynaud, M; Jonard, L; Feldmann, D; Loundon, N; Denoyelle, F; Toutain, A

Follow Clinical Genetics , Volume 76 (6) Wiley – Dec 1, 2009

McCahon, D; Holder, R; Metcalfe, A; Clifford, S; Gill, P; Cole, T; Sleightholme, HV; Wilson, S

Follow Clinical Genetics , Volume 76 (6) Wiley – Dec 1, 2009

Follow Clinical Genetics , Volume 76 (6) Wiley – Dec 1, 2009

Nyström, AM; Ekvall, S; Allanson, J; Edeby, C; Elinder, M; Holmström, G; Bondeson, ML; Annerén, G

Follow Clinical Genetics , Volume 76 (6) Wiley – Dec 1, 2009

Lévesque, S; Dombrowski, C; Morel, M-L; Rehel, R; Côté, J-S; Bussières, J; Morgan, K; Rousseau, F

Follow Clinical Genetics , Volume 76 (6) Wiley – Dec 1, 2009

Faiyaz-Ul-Haque, M; Al-Jefri, A; Abalkhail, HA; Toulimat, M; Al-Muallimi, MA; Pulicat, MS; Gaafar, A; Alaiya, AA; Al-Dayel, F; Peltekova, I; Zaidi, SHE

Follow Clinical Genetics , Volume 76 (6) Wiley – Dec 1, 2009

Froyen, G; Govaerts, K; Van Esch, H; Verbeeck, J; Tuomi, M-L; Heikkilä, H; Torniainen, S; Devriendt, K; Fryns, J-P; Marynen, P; Järvelä, I; Ala-Mello, S

Follow Clinical Genetics , Volume 76 (6) Wiley – Dec 1, 2009

Borgatti, Renato; Marelli, Susan; Bernardini, Laura; Novelli, Antonio; Cavallini, Anna; Tonelli, Alessandra; Bassi, Maria Teresa; Dallapiccola, Bruno

Follow Clinical Genetics , Volume 76 (6) Wiley – Dec 1, 2009

Moya-Quiles, MR; Mondéjar-López, P; Pastor-Vivero, MD; González-Gallego, I; Juan-Fita, MJ; Egea-Mellado, JM; Carbonell, P; Casals, T; Fernández-Sánchez, A; Sánchez-Solís, M; Glover, G

Follow Clinical Genetics , Volume 76 (6) Wiley – Dec 1, 2009

Sambuughin, N; Capacchione, J; Blokhin, A; Bayarsaikhan, M; Bina, S; Muldoon, S

Follow Clinical Genetics , Volume 76 (6) Wiley – Dec 1, 2009

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Follow Clinical Genetics , Volume 76 (6)
Wiley – Dec 1, 2009

Follow Clinical Genetics , Volume 76 (6)
Wiley – Dec 1, 2009

Follow Clinical Genetics , Volume 76 (6)
Wiley – Dec 1, 2009

Follow Clinical Genetics , Volume 76 (6)
Wiley – Dec 1, 2009

Follow Clinical Genetics , Volume 76 (6)
Wiley – Dec 1, 2009

Follow Clinical Genetics , Volume 76 (6)
Wiley – Dec 1, 2009

Follow Clinical Genetics , Volume 76 (6)
Wiley – Dec 1, 2009

Follow Clinical Genetics , Volume 76 (6)
Wiley – Dec 1, 2009

Follow Clinical Genetics , Volume 76 (6)
Wiley – Dec 1, 2009

Follow Clinical Genetics , Volume 76 (6)
Wiley – Dec 1, 2009