Prevalence of AHI1 and NPHP1 mutations and genotype-phenotype correlations in a cohort of 25 Dutch patients with Joubert syndrome

H.Y. Kroes; P.H.A van Zon; D. Lindhout; M. Geelen; D. Fransen van der Putte; R.A.J. Nievelstein; R.J. Sinke

Prevalence of AHI1 and NPHP1 mutations and genotype-phenotype correlations in a cohort of 25 Dutch patients with Joubert syndrome

Translated title of the contribution: Prevalence of AHI1 and NPHP1 mutations and genotype-phenotype correlations in a cohort of 25 Dutch patients with Joubert syndrome

H.Y. Kroes, P.H.A van Zon, D. Lindhout, M. Geelen, D. Fransen van der Putte, R.A.J. Nievelstein, R.J. Sinke

Research output: Contribution to conference › Poster › Other research output

Translated title of the contribution	Prevalence of AHI1 and NPHP1 mutations and genotype-phenotype correlations in a cohort of 25 Dutch patients with Joubert syndrome
Original language	Undefined/Unknown
Publication status	Published - 6 May 2006
Event	European Society of Human Genetics conference, Amsterdam - Duration: 6 May 2006 → 9 May 2006

Conference

Conference	European Society of Human Genetics conference, Amsterdam
Period	6/05/06 → 9/05/06

Cite this

@conference{eb875560e600428a81254d950d44949f,

title = "Prevalence of AHI1 and NPHP1 mutations and genotype-phenotype correlations in a cohort of 25 Dutch patients with Joubert syndrome",

author = "H.Y. Kroes and {van Zon}, P.H.A and D. Lindhout and M. Geelen and {Fransen van der Putte}, D. and R.A.J. Nievelstein and R.J. Sinke",

note = "European Society of Human Genetics conference, Amsterdam; European Society of Human Genetics conference, Amsterdam ; Conference date: 06-05-2006 Through 09-05-2006",

year = "2006",

month = may,

day = "6",

language = "Undefined/Unknown",

}

TY - CONF

T1 - Prevalence of AHI1 and NPHP1 mutations and genotype-phenotype correlations in a cohort of 25 Dutch patients with Joubert syndrome

AU - Kroes, H.Y.

AU - van Zon, P.H.A

AU - Lindhout, D.

AU - Geelen, M.

AU - Fransen van der Putte, D.

AU - Nievelstein, R.A.J.

AU - Sinke, R.J.

N1 - European Society of Human Genetics conference, Amsterdam

PY - 2006/5/6

Y1 - 2006/5/6

M3 - Poster

T2 - European Society of Human Genetics conference, Amsterdam

Y2 - 6 May 2006 through 9 May 2006

ER -