The Biological Coherence of Human Phenome DatabasesOTI, Martin; HUYNEN, Martijn A; BRUNNER, Han G et al.American journal of human genetics. 2009, Vol 85, Num 6, pp 801-808, issn 0002-9297, 8 p.Article

Feingold syndrome: Clinical review and genetic mappingCELLI, Jacopo; VAN BOKHOVEN, Hans; BRUNNER, Han G et al.American journal of medical genetics. 2003, Vol 122A, Num 4, pp 294-300, issn 0148-7299, 7 p.Conference Paper

P63 gene mutations and human developmental syndromesBRUNNER, Han G; HAMEL, Ben C. J; VAN BOKHOVEN, Hans et al.American journal of medical genetics. 2002, Vol 112, Num 3, pp 284-290, issn 0148-7299, 7 p.Conference Paper

Meier―Gorlin Syndrome: Growth and Secondary Sexual Development of a Microcephalic Primordial Dwarfism DisorderDE MUNNIK, Sonja A; OTTEN, Barto J; DEAL, Cheri L et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 11, pp 2733-2742, issn 1552-4825, 10 p.Article

CEP152 is a genome maintenance protein disrupted in Seckel syndromeKALAY, Ersan; YIGIT, Gökhan; KIESS, Wieland et al.Nature genetics. 2011, Vol 43, Num 1, pp 23-26, issn 1061-4036, 4 p.Article

Mutations of ESRRB Encoding Estrogen-Related Receptor Beta Cause Autosomal-Recessive Nonsyndromic Hearing Impairment DFNB35COLLIN, Rob W. J; KALAY, Ersan; YUN LI et al.American journal of human genetics. 2008, Vol 82, Num 1, pp 125-138, issn 0002-9297, 14 p.Article

Clinical and molecular phenotype of Aicardi-Goutières syndromeRICE, Gillian; PATRICK, Teresa; BAXTER, Peter et al.American journal of human genetics. 2007, Vol 81, Num 4, pp 713-725, issn 0002-9297, 13 p.Article

Intragenic deletion in the LARGE gene causes Walker-Warburg syndromeVAN REEUWIJK, Jeroen; GREWAL, Prabhjit K; SHAHEED, Mohamed M et al.Human genetics. 2007, Vol 121, Num 6, pp 685-690, issn 0340-6717, 6 p.Article

Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndromeARTS, Heleen H; DOHERTY, Dan; OZYUREK, Hamit et al.Nature genetics. 2007, Vol 39, Num 7, pp 882-888, issn 1061-4036, 7 p.Article

A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphismKOOLEN, David A; VISSERS, Lisenka E. L. M; SCHINZEL, Albert et al.Nature genetics. 2006, Vol 38, Num 9, pp 999-1001, issn 1061-4036, 3 p.Article

Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11)LUIJENDIJK, Mirjam W. J; VAN WIJK, Erwin; BISCHOFF, Anne M. L. C et al.Human genetics. 2004, Vol 115, Num 2, pp 149-156, issn 0340-6717, 8 p.Article

Mutations in a new member of the chromodomain gene family cause CHARGE syndromeVISSERS, Lisenka E. L. M; VAN RAVENSWAAIJ, Conny M. A; SCHOENMAKERS, Eric F. P. M et al.Nature genetics. 2004, Vol 36, Num 9, pp 955-957, issn 1061-4036, 3 p.Article

Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63MCGRATH, John A; DUIJF, Pascal H. G; ORLOW, Seth J et al.Human molecular genetics (Print). 2001, Vol 10, Num 3, pp 221-229, issn 0964-6906Article

p63 Gene mutations in EEC syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlationVAN BOKHOVEN, Hans; HAMEL, Ben C. J; MERKX, Gerard F. M et al.American journal of human genetics. 2001, Vol 69, Num 3, pp 481-492, issn 0002-9297Article

Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndromeKOOLEN, David A; KRAMER, Jamie M; SAU WAI CHEUNG et al.Nature genetics. 2012, Vol 44, Num 6, pp 639-641, issn 1061-4036, 3 p.Article

Phenotypic Variability in Hyperphosphatasia With Seizures and Neurologic Deficit (Mabry Syndrome)THOMPSON, Miles D; ROSCIOLI, Tony; KRAWITZ, Peter et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 3, pp 553-558, issn 1552-4825, 6 p.Article

Recurrent De Novo Mutations in PACS1 Cause Defective Cranial-Neural-Crest Migration and Define a Recognizable Intellectual-Disability SyndromeSCHUURS-HOEIJMAKERS, Janneke H. M; OH, Edwin C; BOKHOVEN, Hans Van et al.American journal of human genetics. 2012, Vol 91, Num 6, pp 1122-1127, issn 0002-9297, 6 p.Article

C140RF179 encoding IFT43 is mutated in Sensenbrenner syndromeARTS, Heleen H; BONGERS, Ernie M. H. F; CORMIER-DAIRE, Valérie et al.Journal of medical genetics. 2011, Vol 48, Num 6, pp 390-395, issn 0022-2593, 6 p.Article

Chondrodysplasia and Abnormal Joint Development Associated with Mutations in IMPAD1, Encoding the Golgi-Resident Nucleotide Phosphatase, gPAPPVISSERS, Lisenka E. L. M; LAUSCH, Ekkehart; NAIR, Mohandas et al.American journal of human genetics. 2011, Vol 88, Num 5, pp 608-615, issn 0002-9297, 8 p.Article

Impaired glycosylation and cutis laxa caused by mutations in the vesicular H⁺-ATPase subunit ATP6VOA2KORNAK, Uwe; REYNDERS, Ellen; URBAN, Zsolt et al.KORNAK, Uwe; Nature genetics. 2008, Vol 40, Num 1, pp 32-34, issn 1061-4036, 3 p.Article

Mutations in different components of FGF signaling in LADD syndromeROHMANN, Edyta; BRUNNER, Han G; LEROY, Jules G et al.Nature genetics. 2006, Vol 38, Num 4, pp 414-417, issn 1061-4036, 4 p.Article

Sequence analysis of the PLEXIN-D1 gene in Möbius syndrome patientsVAN DER ZWAAG, Bert; VERZIJL, Harriette T. F. M; WICHERS, Karin H et al.Pediatric neurology. 2004, Vol 31, Num 2, pp 114-118, issn 0887-8994, 5 p.Article

A new web-based data mining tool for the identification of candidate genes for human genetic disordersVAN DRIEL, Marc A; CUELENAERE, Koen; KEMMEREN, Patrick P. C. W et al.European journal of human genetics. 2003, Vol 11, Num 1, pp 57-63, issn 1018-4813, 7 p.Article

Novel types of mutation in the choroideremia (CHM) gene: a full-length L1 insertion and an intronic mutation activating a cryptic exonVAN DEN HURK, José A. J. M; VAN DE POL, Dorien J. R; ROPERS, Hans-Hilger et al.Human genetics. 2003, Vol 113, Num 3, pp 268-275, issn 0340-6717, 8 p.Article

Mutations in the ABCA4 (ABCRr) gene are the major cause of autosomal recessive cone-rod dystrophyMAUGERI, Alessandra; KLEVERING, B. Jeroen; ROHRSCHNEIDER, Klaus et al.American journal of human genetics. 2000, Vol 67, Num 4, pp 960-966, issn 0002-9297Article