A familial syndrome of microcephaly, sparse hair, mental retardation, and seizures.

অনুযায়ী van Haeringen, A, Hurst, J A, Savidge, R, Baraitser, M
প্রকাশিত 1990

Paradox of a better test for Huntington's disease

অনুযায়ী Maat-Kievit, A, Vlis, M, Zoeteweij, M, Losekoot, M, van Haeringen, A, Roos, R
প্রকাশিত 2000

Acromesomelic dysplasia Maroteaux type maps to human chromosome 9.

অনুযায়ী Kant, S G, Polinkovsky, A, Mundlos, S, Zabel, B, Thomeer, R T, Zonderland, H M, Shih, L, van Haeringen, A, Warman, M L
প্রকাশিত 1998

Genotype‐phenotype correlations of 39 patients with Cornelia De Lange syndrome: the Dutch experience

অনুযায়ী Bhuiyan, Z A, Klein, M, Hammond, P, van Haeringen, A, Mannens, M M A M, Van Berckelaer‐Onnes, I, Hennekam, R C M
প্রকাশিত 2006

Pitt-Rogers-Danks syndrome and Wolf-Hirschhorn syndrome are caused by a deletion in the same region on chromosome 4p 16.3.

অনুযায়ী Kant, S G, Van Haeringen, A, Bakker, E, Stec, I, Donnai, D, Mollevanger, P, Beverstock, G C, Lindeman-Kusse, M C, Van Ommen, G J
প্রকাশিত 1997

Psychological distress in applicants for predictive DNA testing for autosomal dominant, heritable, late onset disorders. The Rotterdam/Leiden Genetics Workgroup.

অনুযায়ী DudokdeWit, A C, Tibben, A, Duivenvoorden, H J, Frets, P G, Zoeteweij, M W, Losekoot, M, van Haeringen, A, Niermeijer, M F, Passchier, J
প্রকাশিত 1997

Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations

অনুযায়ী Petrij, F., Dauwerse, H., Blough, R., Giles, R., van der Smagt, J. J, Wallerstein, R., Maaswinkel-Mooy, P., van Karnebeek, C. D, van Ommen, G.-J. B, van Haeringen, A., Rubinstein, J., Saal, H., Hennekam, R., Peters, D., Breuning, M.
প্রকাশিত 2000

Array‐CGH detection of micro rearrangements in mentally retarded individuals: clinical significance of imbalances present both in affected children and normal parents

অনুযায়ী Rosenberg, C, Knijnenburg, J, Bakker, E, Vianna‐Morgante, A M, Sloos, W, Otto, P A, Kriek, M, Hansson, K, Krepischi‐Santos, A C V, Fiegler, H, Carter, N P, Bijlsma, E K, van Haeringen, A, Szuhai, K, Tanke, H J
প্রকাশিত 2006

Determining the genome-wide kinship coefficient seems unhelpful in distinguishing consanguineous couples with a high versus low risk for adverse reproductive outcome

অনুযায়ী Kelmemi, W., Teeuw, M. E., Bochdanovits, Z., Ouburg, S., Jonker, M. A., Alkuraya, F., Hashem, M., Kayserili, H., van Haeringen, A., Sheridan, E., Masri, A., Cobben, J. M., Rizzu, P., Kostense, P. J., Dommering, C. J., Henneman, L., Bouhamed-Chaabouni, H., Heutink, P., ten Kate, L. P., Cornel, M. C.
প্রকাশিত BMC Med Genet (2015)

De novo variants in CNOT3 cause a variable neurodevelopmental disorder

অনুযায়ী Martin, R., Splitt, M., Genevieve, D., Aten, E., Collins, A., de Bie, C. I., Faivre, L., Foulds, N., Giltay, J., Ibitoye, R., Joss, S., Kennedy, J., Kerr, B., Kivuva, E., Koopmans, M., Newbury-Ecob, R., Jean-Marçais, N., Peeters, E. A. J., Smithson, S., Tomkins, S., Tranmauthem, F., Piton, A., van Haeringen, A.
প্রকাশিত Eur J Hum Genet (2019)

Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function

অনুযায়ী Lacbawan, F, Solomon, B D, Roessler, E, El-Jaick, K, Domené, S, Vélez, J I, Zhou, N, Hadley, D, Balog, J Z, Long, R, Fryer, A, Smith, W, Omar, S, McLean, S D, Clarkson, K, Lichty, A, Clegg, N J, Delgado, M R, Levey, E, Stashinko, E, Potocki, L, VanAllen, M I, Clayton-Smith, J, Donnai, D, Bianchi, D W, Juliusson, P B, Njølstad, P R, Brunner, H G, Carey, J C, Hehr, U, Müsebeck, J, Wieacker, P F, Postra, A, Hennekam, R C M, van den Boogaard, M-J H, van Haeringen, A, Paulussen, A, Herbergs, J, Schrander-Stumpel, C T R M, Janecke, A R, Chitayat, D, Hahn, J, McDonald-McGinn, D M, Zackai, E H, Dobyns, W B, Muenke, M
প্রকাশিত 2009