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1. • Journal article

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   The phenotype of Leber congenital amaurosis in patients with AIPL1 mutations

   Dhamaraj, S Leroy, Bart P. Sohocki, MM Koenekoop, RK Perrault, I Anwar, K Khaliq, S Devi, RS Birch, DG De Pool, E Izquierdo, N Van Maldergem, L. Ismail, M Payne, AM Holder, GE Bhattacharya, SS Bird, AC Kaplan, J Maumenee, IH (2004) Archives of Ophthalmology — Vol. 122, no. 7, p. 1029-1037 (2004)
2. • Speech

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   Multiplex ligation-dependent probe amplification (MLPA): A promising technology in the detection of subtelomeric rearrangements.

   Hilbert, P Michel, MN Sartenaer, D. Rombout, S Parmentier, B Gillerot, Y. Van Maldergem, L. (2003) Annual Meeting of the American-Society-of-Human-Genetics — LOS ANGELES(California)
3. • Journal article

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   Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and early-onset liver cirrhosis in two siblings

   Van Maldergem, L. Fourneau, C. Gillerot, Y. Tuerlinckx, David[UCL] Bachy, A. Wanders, R.J. Vianey-Saban, C. Van Hoof, François[UCL] Martin, J.-J. (2000) European Journal of Pediatrics — Vol. 159, no.1-2, p. 108-112 (2000)
4. • Speech

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   Coenzyme Q-responsive Leigh encephalopathy in two sisters.

   Maystadt, I. Trijbels, F DiMauro, S Sindelar, PJ Musumeci, O Janssen, A Delberghe, X Martin, JJ. Van Maldergem, L. (2002) 52nd Annual Meeting of the American-Society-of-Human-Genetics — BALTIMORE(Maryland)
5. • Speech

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   Enabling the translation of genetic research into diagnostic service: A comparison of three cases.

   Albott, CS Van Maldergem, L. (2002) European-Society-of-Human-Genetics European Human Genetics Conference in Conjuction With European Meeting on Psychosocial Aspects of Genetics — STRASBOURG(France)
6. • Speech

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   Coenzyme Q- responsive Leigh's encephalopathy in two sisters

   Van Maldergem, L. Trijbels, F DiMauro, S Sindelar, PJ Musumeci, O Janssen, A Delberghe, X Martin, JJ. Gillerot, Y. (2002) 30th Annual Meeting of the Society-for-the-Study-of-Inborn-Errors-of-Metabolism — CAMBRIDGE(England)
7. • Speech

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   Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy.

   Van Maldergem, L. Magre, J Gedde-Dahl, T Khallout, E Seemanova, E Lathrop, M. Capeau, J O'Rahilly, S (2002) 52nd Annual Meeting of the American-Society-of-Human-Genetics — BALTIMORE(Maryland)
8. • Speech

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   Characterisation of a microdeletion in Xp11.23 cosegregating in a small family with X-linked retinitis pigmentosa (RP2) and psychosis.

   Thiselton, DL Brandau, O Meindl, A Riley, BP Kendler, KS Van Maldergem, L. Hardcastle, AJ (2002) 52nd Annual Meeting of the American-Society-of-Human-Genetics — BALTIMORE(Maryland)
9. • Journal article

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   SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve

   Bennett, CL Shirk, AJ Huynh, HM Street, VA Nelis, E. Van Maldergem, L. De Jonghe, P. Jordanova, A. Guergueltcheva, V Tournev, I Van den Bergh, Peter[UCL] Seeman, P Mazanec, R Prochazka, T Kremensky, I[UCL] Haberlova, J Weiss, MD Timmerman, V Bird, TD Chance, PF (2004) Annals of Neurology — Vol. 55, no. 5, p. 713-20 (2004)
10. • Journal article

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    Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome

    Windpassinger, C Van den Bergh, Peter[UCL] Auer-Grumbach, M Irobi, J Patel, H Petek, E Horl, G Malli, R Reed, JA Dierick, I Verpoorten, N Warner, TT Proukakis, C Dumoulin, Christine[UCL] Van Maldergem, L. Merlini, L De Jonghe, P. Timmerman, V Crosby, AH Wagner, K. (2004) Nature Genetics — Vol. 36, no. 3, p. 271-6 (2004)
11. • Journal article

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    The phenotype of motor neuropathies associated with BSCL2 mutations is broader than Silver syndrome and distal HMN type V

    Irobi, J Van den Bergh, Peter[UCL] Merlini, L Dumoulin, Christine[UCL] Van Maldergem, L. Dierick, I Verpoorten, N Jordanova, A. Windpassinger, C De Vriendt, E Van Gerwen, V Auer-Grumbach, M Wagner, K. Timmerman, V De Jonghe, P. (2004) Brain : a journal of neurology — Vol. 127, no. Pt 9, p. 2124-30 (2004)
12. • Speech

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    Characterisation of a microdeletion in Xp11.23 associated with X-linked retinitis pigmentosa (RP2) and psychosis in a small family

    Thiselton, DL Brandau, O Meindl, A Riley, BP Kendler, KS Van Maldergem, L. Hardcastle, AJ (2002) 10th World Congress of Psychiatric Genetics — BRUSSELS(Belgium)
13. • Speech

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    Low frequency of the GJB6 342 Kb deletion in the belgian deaf population.

    Hilbert, P Wuyts, W. Del Castillo, I Mariage, L Peeters, N Ligny, S Courtmans, I Fourneau, AF Moreno, F Van Camp, G. Van Maldergem, L. (2002) 52nd Annual Meeting of the American-Society-of-Human-Genetics — BALTIMORE(Maryland)
14. • Speech

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    Multiple exostoses, mental retardation, hypertrichosis, and brain abnormalities in a boy with a de novo 8q24 submicroscopic interstitial deletion

    Wuyts, W. Roland, D. Ludecke, HJ Wauters, J. Foulon, Michel[UCL] Van Hul, W. Van Maldergem, L. (2002) 49th Annual Meeting of the American-Society-of-Human-Genetics — SAN FRANCISCO(California)
15. • Speech

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    Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome

    Glaser, RL Jiang, W Boyadjiev, SA Tran, AK Zachary, AA Van Maldergem, L. Johnson, M Walsh, S Oldridge, M Wall, SA Wilkie, AOM Jabs, EW (2000) 49th Annual Meeting of the American-Society-of-Human-Genetics — SAN FRANCISCO(California)
16. • Speech

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    Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy

    Van Maldergem, L. Magre, J Gedde-Dahl, T Khallouf, E Lathrop, M. Capeau, J O'Rahilly, S (2002) European-Society-of-Human-Genetics European Human Genetics Conference in Conjuction With European Meeting on Psychosocial Aspects of Genetics — STRASBOURG(France)
17. • Speech

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    Sensory neuropathy with decreased NCV in Fabry patients with preserved renal function.

    Ribai, P Henriet, Marielle[UCL] Dehout, F. Roland, D. Van Maldergem, L. (2002) 52nd Annual Meeting of the American-Society-of-Human-Genetics — BALTIMORE(Maryland)
18. • Speech

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    Evaluation of the multiplex ligation-dependent probe amplification (MLPA) technology in the diagnosis of Rett syndrome.

    Boulanger, S Mariage, L Van Maldergem, L. Gillerot, Y. Hilbert, P (2003) Annual Meeting of the American-Society-of-Human-Genetics — LOS ANGELES(California)
19. • Journal article

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    Orthotopic liver transplantation from a living-related donor in an infant with a peroxisome biogenesis defect of the infantile Refsum disease type.

    Van Maldergem, L. Moser, A B Vincent, Marie-Françoise[UCL] Roland, D. Reding, Raymond[UCL] Otte, Jean-Bernard Wanders, R J Sokal, Etienne[UCL] (2005) Journal of Inherited Metabolic Disease — Vol. 28, no. 4, p. 593-600 (2005)
20. • Journal article

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    Pure terminal duplication of the short arm of chromosome 19 in a boy with mild microcephaly.

    Andries, S. Sartenaer, D. Rack, K. Rombout, S. Tuerlinckx, David[UCL] Gillerot, Y. Van Maldergem, L. (2002) Journal of medical genetics — Vol. 39, no. 10, p. e60 (2002)
21. • Journal article

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    Congenital microcephaly and seizures due to 3-phosphoglycerate dehydrogenase deficiency: Outcome of treatment with amino acids

    De Koning, TJ Duran, M. Van Maldergem, L. Pineda, M Dorland, L Gooskens, R Jaeken, J. Poll-The, BT (2002) Journal of Inherited Metabolic Disease — Vol. 25, no. 2, p. 119-125 (2002)
22. • Speech

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    Camurati-Engelmann disease is caused by mutations in the TGFB1 gene

    Janssens, K Gershoni-Baruch, R Guanabens, N Migone, N. Ralston, SH MacPherson, H Bonduelle, M. Lissens, W. Van Maldergem, L. Vanhoenacker, F. Verbruggen, L. Van Hul, W. (2001) —
23. • Journal article

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    IRF6 screening of syndromic and a priori non-syndromic cleft lip and palate patients : identification of a new type of minor VWS sign.

    Desmyter, Laurence[UCL] Ghassibé, Michella[UCL] Revencu, Nicole[UCL] Boute, O Lees, M François, Geneviève[UCL] Dumoulin, Christine[UCL] Sznajer, Yves[UCL] Moncla, A Benateau, H. Claes, K Devriendt, Koenraad Mathieu, M. Van Maldergem, L. Addor, M.-C. Drouin-Garraud, V Mortier, G. Bouma, M Dieux-Coeslier, A Genevieve, D Goldenberg, A Gozu, A Makrythanasis, P McEntagart, U Sanchez, A. Vilain, C. Vermeer, S Connell, F Verheij, J Manouvrier, S Pierquin, G. Odent, S Holder-Espinasse, M Vincent-Delorme, C Gillerot, Y.[UCL] Vanwijck, Romain[UCL] Bayet, Bénédicte[UCL] Vikkula, Miikka[UCL] (2010) Molecular Syndromology — Vol. 1, no. 2, p. 67-74 (2010)
24. • Speech

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    Use of denaturing high performance liquid chromatography (DHPLC) for connexin 26 gene mutation screening.

    Hilbert, P Kint, C Van Maldergem, L. Gillerot, Y. (1999) —
25. • Journal article

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    Prenatal ultrasound detection of congenital cataract in trisomy 21

    Romain, M Awoust, J Dugauquier, C Van Maldergem, L. (1999) Prenatal Diagnosis — Vol. 19, no. 8, p. 780-782 (1999)

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