Lethal femoral-facial syndrome: a case with unusual manifestations.

od Gillerot, Y, Fourneau, C, Willems, T, Van Maldergem, L
Wydane 1997

The Baller-Gerold syndrome.

od Van Maldergem, L, Verloes, A, Lejeune, L, Gillerot, Y
Wydane 1992

Hypoglossia-hypodactyly syndrome with hydrocephalus: a clue to the aetiology?

od Gillerot, Y, Van Maldergem, L, Chef, R, Koulischer, L
Wydane 1991

Microspherophakia-metaphyseal dysplasia: a 'new' dominantly inherited bone dysplasia with severe eye involvement.

od Verloes, A, Van Maldergem, L, de Marneffe, P, Dufier, J L, Maroteaux, P
Wydane 1990

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

od Andries, S, Sartenaer, D, Rack, K, Rombout, S, Tuerlinckx, D, Gillerot, Y, Van Maldergem, L
Wydane 2002

Hereditary vitamin D resistant rickets caused by a novel mutation in the vitamin D receptor that results in decreased affinity for hormone and cellular hyporesponsiveness.

od Malloy, P J, Eccleshall, T R, Gross, C, Van Maldergem, L, Bouillon, R, Feldman, D
Wydane 1997

3-Phosphoglycerate dehydrogenase deficiency: an inborn error of serine biosynthesis.

od Jaeken, J, Detheux, M, Van Maldergem, L, Foulon, M, Carchon, H, Van Schaftingen, E
Wydane 1996

Brachymorphism-onychodysplasia-dysphalangism syndrome.

od Verloes, A, Bonneau, D, Guidi, O, Berthier, M, Oriot, D, Van Maldergem, L, Koulischer, L
Wydane 1993

The gene for hereditary multiple exostoses does not map to the Langer-Giedion region (8q23-q24).

od Le Merrer, M, Ben Othmane, K, Stanescu, V, Lyonnet, S, Van Maldergem, L, Royer, G, Munnich, A, Maroteaux, P
Wydane 1992

Disruption of a new X linked gene highly expressed in brain in a family with two mentally retarded males

od Cantagrel, V, Lossi, A, Boulanger, S, Depetris, D, Mattei, M, Gecz, J, Schwartz, C, Van Maldergem, L, Villard, L
Wydane 2004

Mutations in the RP2 gene cause disease in 10% of families with familial X-linked retinitis pigmentosa assessed in this study.

od Hardcastle, A J, Thiselton, D L, Van Maldergem, L, Saha, B K, Jay, M, Plant, C, Taylor, R, Bird, A C, Bhattacharya, S
Wydane 1999

Substitution of aspartic acid for glycine at position 310 in type II collagen produces achondrogenesis II, and substitution of serine at position 805 produces hypochondrogenesis: a...

od Bonaventure, J, Cohen-Solal, L, Ritvaniemi, P, Van Maldergem, L, Kadhom, N, Delezoide, A L, Maroteaux, P, Prockop, D J, Ala-Kokko, L
Wydane 1995

Localisation of the gene causing diaphyseal dysplasia Camurati-Engelmann to chromosome 19q13

od Janssens, K., Gershoni-Baruch, R., Van Hul, E., Brik, R., Guanabens, N., Migone, N., Verbruggen, L., Ralston, S., Bonduelle, M., Van Maldergem, L., Vanhoenacker, F., Van Hul, W.
Wydane 2000

Camurati‐Engelmann disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatment

od Janssens, K, Vanhoenacker, F, Bonduelle, M, Verbruggen, L, Van Maldergem, L, Ralston, S, Guañabens, N, Migone, N, Wientroub, S, Divizia, M T, Bergmann, C, Bennett, C, Simsek, S, Melançon, S, Cundy, T, Van Hul, W
Wydane 2006

Congenital generalized lipodystrophy: identification of novel variants and expansion of clinical spectrum

od Haghighi, A., Kavehmanesh, Z., Haghighi, A., Salehzadeh, F., Santos-Simarro, F., Van Maldergem, L., Cimbalistiene, L., Collins, F., Chopra, M., Al-Sinani, S., Dastmalchian, S., de Silva, D.C., Bakhti, H., Garg, A., Hilbert, P.
Wydane w Clin Genet (2015)

Revisiting the craniosynostosis‐radial ray hypoplasia association: Baller‐Gerold syndrome caused by mutations in the RECQL4 gene

od Van Maldergem, L, Siitonen, H A, Jalkh, N, Chouery, E, De Roy, M, Delague, V, Muenke, M, Jabs, E W, Cai, J, Wang, L L, Plon, S E, Fourneau, C, Kestilä, M, Gillerot, Y, Mégarbané, A, Verloes, A
Wydane 2006

A common ancestor for COCH related cochleovestibular (DFNA9) patients in Belgium and The Netherlands bearing the P51S mutation

od FRANSEN, E., VERSTREKEN, M., BOM, S., LEMAIRE, F., KEMPERMAN, M., DE KOK, Y. J M, WUYTS, F., VERHAGEN, W., HUYGEN, P., MCGUIRT, W., SMITH, R., VAN MALDERGEM, L., DECLAU, F., CREMERS, C., VAN DE HEYNING, P. H, CREMERS, F., VAN CAMP, G.
Wydane 2001

Clinical, molecular, and genotype–phenotype correlation studies from 25 cases of oral–facial–digital syndrome type 1: a French and Belgian collaborative study

od Thauvin‐Robinet, C, Cossée, M, Cormier‐Daire, V, Van Maldergem, L, Toutain, A, Alembik, Y, Bieth, E, Layet, V, Parent, P, David, A, Goldenberg, A, Mortier, G, Héron, D, Sagot, P, Bouvier, A M, Huet, F, Cusin, V, Donzel, A, Devys, D, Teyssier, J R
Wydane 2006

The spectrum of mutations in TBX3: Genotype/Phenotype relationship in ulnar-mammary syndrome.

od Bamshad, M, Le, T, Watkins, W S, Dixon, M E, Kramer, B E, Roeder, A D, Carey, J C, Root, S, Schinzel, A, Van Maldergem, L, Gardner, R J, Lin, R C, Seidman, C E, Seidman, J G, Wallerstein, R, Moran, E, Sutphen, R, Campbell, C E, Jorde, L B
Wydane 1999

Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy

od Van Maldergem, L, Magre, J, Khallouf, T, Gedde-Dahl, T, Delepine, M, Trygstad, O, Seemanova, E, Stephenson, T, Albott, C, Bonnici, F, Panz, V, Medina, J, Bogalho, P, Huet, F, Savasta, S, Verloes, A, Robert, J, Loret, H, de Kerdanet, M, Tubiana-Rufi, N, Megarbane, A, Maassen, J, Polak, M, Lacombe, D, Kahn, C, Silveira, E, D'Abronzo, F, Grigorescu, F, Lathrop, M, Capeau, J, O'Rahilly, S
Wydane 2002