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; M. Geelen; D. Fransen van der Putte; R.A.J. Nievelstein; D. Lindhout; 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, M. Geelen, D. Fransen van der Putte, R.A.J. Nievelstein, D. Lindhout, R.J. Sinke

Research output: Contribution to conference › Abstract › 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
Pages	134-135
Number of pages	2
Publication status	Published - 6 May 2006
Event	European Society of Human Genetics meeting - Amsterdam Duration: 6 May 2006 → 9 May 2006

Conference

Conference	European Society of Human Genetics meeting
City	Amsterdam
Period	6/05/06 → 9/05/06

Cite this

@conference{4f96bd8ca47144cc873e2ebd323918bc,

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 M. Geelen and {Fransen van der Putte}, D. and R.A.J. Nievelstein and D. Lindhout and R.J. Sinke",

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

year = "2006",

month = may,

day = "6",

language = "Undefined/Unknown",

pages = "134--135",

}

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 - Geelen, M.

AU - Fransen van der Putte, D.

AU - Nievelstein, R.A.J.

AU - Lindhout, D.

AU - Sinke, R.J.

N1 - European Society of Human Genetics meeting

PY - 2006/5/6

Y1 - 2006/5/6

M3 - Abstract

SP - 134

EP - 135

T2 - European Society of Human Genetics meeting

Y2 - 6 May 2006 through 9 May 2006

ER -