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Steroids in intractable childhood epilepsy: clinical experience and review of the literature. [electronic resource] by
- Verhelst, Helene
- Boon, Paul
- Buyse, Gunnar
- Ceulemans, Berten
- D'Hooghe, Marc
- Meirleir, Linda De
- Hasaerts, Danièle
- Jansen, An
- Lagae, Lieven
- Meurs, Alfred
- Coster, Rudy Van
- Vonck, Kristl
Producer: 20051207
In:
Seizure vol. 14
Availability: No items available.
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Variant ataxia telangiectasia: clinical and molecular findings and evaluation of radiosensitive phenotypes in a patient and relatives. [electronic resource] by
- Claes, Kathleen
- Depuydt, Julie
- Taylor, A Malcolm R
- Last, James I
- Baert, Annelot
- Schietecatte, Peter
- Vandersickel, Veerle
- Poppe, Bruce
- De Leeneer, Kim
- D'Hooghe, Marc
- Vral, Anne
Producer: 20140415
In:
Neuromolecular medicine vol. 15
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8.
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Methylation defect in imprinted genes detected in patients with an Albright's hereditary osteodystrophy like phenotype and platelet Gs hypofunction. [electronic resource] by
- Izzi, Benedetta
- Francois, Inge
- Labarque, Veerle
- Thys, Chantal
- Wittevrongel, Christine
- Devriendt, Koen
- Legius, Eric
- Van den Bruel, Annick
- D'Hooghe, Marc
- Lambrechts, Diether
- de Zegher, Francis
- Van Geet, Chris
- Freson, Kathleen
Producer: 20121002
In:
PloS one vol. 7
Availability: No items available.
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9.
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A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy. [electronic resource] by
- Simons, Cas
- Dyment, David
- Bent, Stephen J
- Crawford, Joanna
- D'Hooghe, Marc
- Kohlschütter, Alfried
- Venkateswaran, Sunita
- Helman, Guy
- Poll-The, Bwee-Tien
- Makowski, Christine C
- Ito, Yoko
- Kernohan, Kristin
- Hartley, Taila
- Waisfisz, Quinten
- Taft, Ryan J
- van der Knaap, Marjo S
- Wolf, Nicole I
Producer: 20190523
In:
Brain : a journal of neurology vol. 140
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10.
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Glial fibrillary acidic protein mutations in infantile, juvenile, and adult forms of Alexander disease. [electronic resource] by
- Li, Rong
- Johnson, Anne B
- Salomons, Gajja
- Goldman, James E
- Naidu, Sakkubai
- Quinlan, Roy
- Cree, Bruce
- Ruyle, Stephanie Z
- Banwell, Brenda
- D'Hooghe, Marc
- Siebert, Joseph R
- Rolf, Cristin M
- Cox, Helen
- Reddy, Alyssa
- Gutiérrez-Solana, Luis González
- Collins, Amanda
- Weller, Roy O
- Messing, Albee
- van der Knaap, Marjo S
- Brenner, Michael
Producer: 20050425
In:
Annals of neurology vol. 57
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11.
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Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy. [electronic resource] by
- Jordanova, Albena
- Irobi, Joy
- Thomas, Florian P
- Van Dijck, Patrick
- Meerschaert, Kris
- Dewil, Maarten
- Dierick, Ines
- Jacobs, An
- De Vriendt, Els
- Guergueltcheva, Velina
- Rao, Chitharanjan V
- Tournev, Ivailo
- Gondim, Francisco A A
- D'Hooghe, Marc
- Van Gerwen, Veerle
- Callaerts, Patrick
- Van Den Bosch, Ludo
- Timmermans, Jean-Pièrre
- Robberecht, Wim
- Gettemans, Jan
- Thevelein, Johan M
- De Jonghe, Peter
- Kremensky, Ivo
- Timmerman, Vincent
Producer: 20060404
In:
Nature genetics vol. 38
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CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders. [electronic resource] by
- Brancati, Francesco
- Barrano, Giuseppe
- Silhavy, Jennifer L
- Marsh, Sarah E
- Travaglini, Lorena
- Bielas, Stephanie L
- Amorini, Maria
- Zablocka, Dominika
- Kayserili, Hulya
- Al-Gazali, Lihadh
- Bertini, Enrico
- Boltshauser, Eugen
- D'Hooghe, Marc
- Fazzi, Elisa
- Fenerci, Elif Y
- Hennekam, Raoul C M
- Kiss, Andrea
- Lees, Melissa M
- Marco, Elysa
- Phadke, Shubha R
- Rigoli, Luciana
- Romano, Stephane
- Salpietro, Carmelo D
- Sherr, Elliott H
- Signorini, Sabrina
- Stromme, Petter
- Stuart, Bernard
- Sztriha, Laszlo
- Viskochil, David H
- Yuksel, Adnan
- Dallapiccola, Bruno
- Valente, Enza Maria
- Gleeson, Joseph G
Producer: 20070904
In:
American journal of human genetics vol. 81
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13.
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Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with [electronic resource] by
- Coarelli, Giulia
- Schule, Rebecca
- van de Warrenburg, Bart P C
- De Jonghe, Peter
- Ewenczyk, Claire
- Martinuzzi, Andrea
- Synofzik, Matthis
- Hamer, Elisa G
- Baets, Jonathan
- Anheim, Mathieu
- Schöls, Ludger
- Deconinck, Tine
- Masrori, Pegah
- Fontaine, Bertrand
- Klockgether, Thomas
- D'Angelo, Maria Grazia
- Monin, Marie-Lorraine
- De Bleecker, Jan
- Migeotte, Isabelle
- Charles, Perrine
- Bassi, Maria Teresa
- Klopstock, Thomas
- Mochel, Fanny
- Ollagnon-Roman, Elisabeth
- D'Hooghe, Marc
- Kamm, Christoph
- Kurzwelly, Delia
- Papin, Melanie
- Davoine, Claire-Sophie
- Banneau, Guillaume
- Tezenas du Montcel, Sophie
- Seilhean, Danielle
- Brice, Alexis
- Duyckaerts, Charles
- Stevanin, Giovanni
- Durr, Alexandra
Producer: 20191223
In:
Neurology vol. 92
Availability: No items available.
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The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies. [electronic resource] by
- Redin, Claire
- Brand, Harrison
- Collins, Ryan L
- Kammin, Tammy
- Mitchell, Elyse
- Hodge, Jennelle C
- Hanscom, Carrie
- Pillalamarri, Vamsee
- Seabra, Catarina M
- Abbott, Mary-Alice
- Abdul-Rahman, Omar A
- Aberg, Erika
- Adley, Rhett
- Alcaraz-Estrada, Sofia L
- Alkuraya, Fowzan S
- An, Yu
- Anderson, Mary-Anne
- Antolik, Caroline
- Anyane-Yeboa, Kwame
- Atkin, Joan F
- Bartell, Tina
- Bernstein, Jonathan A
- Beyer, Elizabeth
- Blumenthal, Ian
- Bongers, Ernie M H F
- Brilstra, Eva H
- Brown, Chester W
- Brüggenwirth, Hennie T
- Callewaert, Bert
- Chiang, Colby
- Corning, Ken
- Cox, Helen
- Cuppen, Edwin
- Currall, Benjamin B
- Cushing, Tom
- David, Dezso
- Deardorff, Matthew A
- Dheedene, Annelies
- D'Hooghe, Marc
- de Vries, Bert B A
- Earl, Dawn L
- Ferguson, Heather L
- Fisher, Heather
- FitzPatrick, David R
- Gerrol, Pamela
- Giachino, Daniela
- Glessner, Joseph T
- Gliem, Troy
- Grady, Margo
- Graham, Brett H
- Griffis, Cristin
- Gripp, Karen W
- Gropman, Andrea L
- Hanson-Kahn, Andrea
- Harris, David J
- Hayden, Mark A
- Hill, Rosamund
- Hochstenbach, Ron
- Hoffman, Jodi D
- Hopkin, Robert J
- Hubshman, Monika W
- Innes, A Micheil
- Irons, Mira
- Irving, Melita
- Jacobsen, Jessie C
- Janssens, Sandra
- Jewett, Tamison
- Johnson, John P
- Jongmans, Marjolijn C
- Kahler, Stephen G
- Koolen, David A
- Korzelius, Jerome
- Kroisel, Peter M
- Lacassie, Yves
- Lawless, William
- Lemyre, Emmanuelle
- Leppig, Kathleen
- Levin, Alex V
- Li, Haibo
- Li, Hong
- Liao, Eric C
- Lim, Cynthia
- Lose, Edward J
- Lucente, Diane
- Macera, Michael J
- Manavalan, Poornima
- Mandrile, Giorgia
- Marcelis, Carlo L
- Margolin, Lauren
- Mason, Tamara
- Masser-Frye, Diane
- McClellan, Michael W
- Mendoza, Cinthya J Zepeda
- Menten, Björn
- Middelkamp, Sjors
- Mikami, Liya R
- Moe, Emily
- Mohammed, Shehla
- Mononen, Tarja
- Mortenson, Megan E
- Moya, Graciela
- Nieuwint, Aggie W
- Ordulu, Zehra
- Parkash, Sandhya
- Pauker, Susan P
- Pereira, Shahrin
- Perrin, Danielle
- Phelan, Katy
- Aguilar, Raul E Piña
- Poddighe, Pino J
- Pregno, Giulia
- Raskin, Salmo
- Reis, Linda
- Rhead, William
- Rita, Debra
- Renkens, Ivo
- Roelens, Filip
- Ruliera, Jayla
- Rump, Patrick
- Schilit, Samantha L P
- Shaheen, Ranad
- Sparkes, Rebecca
- Spiegel, Erica
- Stevens, Blair
- Stone, Matthew R
- Tagoe, Julia
- Thakuria, Joseph V
- van Bon, Bregje W
- van de Kamp, Jiddeke
- van Der Burgt, Ineke
- van Essen, Ton
- van Ravenswaaij-Arts, Conny M
- van Roosmalen, Markus J
- Vergult, Sarah
- Volker-Touw, Catharina M L
- Warburton, Dorothy P
- Waterman, Matthew J
- Wiley, Susan
- Wilson, Anna
- Yerena-de Vega, Maria de la Concepcion A
- Zori, Roberto T
- Levy, Brynn
- Brunner, Han G
- de Leeuw, Nicole
- Kloosterman, Wigard P
- Thorland, Erik C
- Morton, Cynthia C
- Gusella, James F
- Talkowski, Michael E
Producer: 20170907
In:
Nature genetics vol. 49
Availability: No items available.
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