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Clinical features and respiratory complications in Myhre syndrome. [electronic resource] by
- McGowan, Ruth
- Gulati, Ramkumar
- McHenry, Pamela
- Cooke, Alexander
- Butler, Sandra
- Keng, Wee Teik
- Murday, Victoria
- Whiteford, Margo
- Dikkers, Frederik G
- Sikkema-Raddatz, Brigit
- van Essen, Ton
- Tolmie, John
Producer: 20120111
In:
European journal of medical genetics vol. 54
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Application of a comprehensive subtelomere array in clinical diagnosis of mental retardation. [electronic resource] by
- Kok, Klaas
- Dijkhuizen, Trijnie
- Swart, Yolanthe E
- Zorgdrager, Hanny
- van der Vlies, Pieter
- Fehrmann, Rudolf
- te Meerman, Gerard J
- Gerssen-Schoorl, Klasien B J
- van Essen, Ton
- Sikkema-Raddatz, Birgit
- Buys, Charles H C M
Producer: 20051109
In:
European journal of medical genetics vol. 48
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Identification of copy number variants associated with BPES-like phenotypes. [electronic resource] by
- Gijsbers, Antoinet C J
- D'haene, Barbara
- Hilhorst-Hofstee, Yvonne
- Mannens, Marcel
- Albrecht, Beate
- Seidel, Joerg
- Witt, David R
- Maisenbacher, Melissa K
- Loeys, Bart
- van Essen, Ton
- Bakker, Egbert
- Hennekam, Raoul
- Breuning, Martijn H
- De Baere, Elfride
- Ruivenkamp, Claudia A L
Producer: 20090106
In:
Human genetics vol. 124
Availability: No items available.
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Missense mutations to the TSC1 gene cause tuberous sclerosis complex. [electronic resource] by
- Nellist, Mark
- van den Heuvel, Diana
- Schluep, Diane
- Exalto, Carla
- Goedbloed, Miriam
- Maat-Kievit, Anneke
- van Essen, Ton
- van Spaendonck-Zwarts, Karin
- Jansen, Floor
- Helderman, Paula
- Bartalini, Gabriella
- Vierimaa, Outi
- Penttinen, Maila
- van den Ende, Jenneke
- van den Ouweland, Ans
- Halley, Dicky
Producer: 20090423
In:
European journal of human genetics : EJHG vol. 17
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Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy. [electronic resource] by
- Navarro, Claire L
- De Sandre-Giovannoli, Annachiara
- Bernard, Rafaëlle
- Boccaccio, Irène
- Boyer, Amandine
- Geneviève, David
- Hadj-Rabia, Smail
- Gaudy-Marqueste, Caroline
- Smitt, Henk Sillevis
- Vabres, Pierre
- Faivre, Laurence
- Verloes, Alain
- Van Essen, Ton
- Flori, Elisabeth
- Hennekam, Raoul
- Beemer, Frits A
- Laurent, Nicole
- Le Merrer, Martine
- Cau, Pierre
- Lévy, Nicolas
Producer: 20050425
In:
Human molecular genetics vol. 13
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Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader-Willi critical region, possibly associated with behavioural disturbances. [electronic resource] by
- Doornbos, Marianne
- Sikkema-Raddatz, Birgit
- Ruijvenkamp, Claudia A L
- Dijkhuizen, Trijnie
- Bijlsma, Emilia K
- Gijsbers, Antoinet C J
- Hilhorst-Hofstee, Yvonne
- Hordijk, Roel
- Verbruggen, Krijn T
- Kerstjens-Frederikse, W S Mieke
- van Essen, Ton
- Kok, Klaas
- van Silfhout, Anneke T
- Breuning, Martijn
- van Ravenswaaij-Arts, Conny M A
Producer: 20090901
In:
European journal of medical genetics vol. 52
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Parental insertional balanced translocations are an important cause of apparently de novo CNVs in patients with developmental anomalies. [electronic resource] by
- Nowakowska, Beata A
- de Leeuw, Nicole
- Ruivenkamp, Claudia Al
- Sikkema-Raddatz, Birgit
- Crolla, John A
- Thoelen, Reinhilde
- Koopmans, Marije
- den Hollander, Nicolette
- van Haeringen, Arie
- van der Kevie-Kersemaekers, Anne-Marie
- Pfundt, Rolph
- Mieloo, Hanneke
- van Essen, Ton
- de Vries, Bert B A
- Green, Andrew
- Reardon, Willie
- Fryns, Jean-Pierre
- Vermeesch, Joris R
Producer: 20120507
In:
European journal of human genetics : EJHG vol. 20
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A 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophy. [electronic resource] by
- de Brouwer, Arjan P M
- Nabuurs, Sander B
- Verhaart, Ingrid E C
- Oudakker, Astrid R
- Hordijk, Roel
- Yntema, Helger G
- Hordijk-Hos, Jannet M
- Voesenek, Krysta
- de Vries, Bert B A
- van Essen, Ton
- Chen, Wei
- Hu, Hao
- Chelly, Jamel
- den Dunnen, Johan T
- Kalscheuer, Vera M
- Aartsma-Rus, Annemieke M
- Hamel, Ben C J
- van Bokhoven, Hans
- Kleefstra, Tjitske
Producer: 20141118
In:
European journal of human genetics : EJHG vol. 22
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Germline mutations in the spindle assembly checkpoint genes BUB1 and BUB3 are risk factors for colorectal cancer. [electronic resource] by
- de Voer, Richarda M
- Geurts van Kessel, Ad
- Weren, Robbert D A
- Ligtenberg, Marjolijn J L
- Smeets, Dominique
- Fu, Lei
- Vreede, Lilian
- Kamping, Eveline J
- Verwiel, Eugène T P
- Hahn, Marc-Manuel
- Ariaans, Maayke
- Spruijt, Liesbeth
- van Essen, Ton
- Houge, Gunnar
- Schackert, Hans K
- Sheng, Jian Q
- Venselaar, Hanka
- van Ravenswaaij-Arts, Conny M A
- van Krieken, J Han J M
- Hoogerbrugge, Nicoline
- Kuiper, Roland P
Producer: 20131112
In:
Gastroenterology vol. 145
Availability: No items available.
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Myhre and LAPS syndromes: clinical and molecular review of 32 patients. [electronic resource] by
- Michot, Caroline
- Le Goff, Carine
- Mahaut, Clémentine
- Afenjar, Alexandra
- Brooks, Alice S
- Campeau, Philippe M
- Destree, Anne
- Di Rocco, Maja
- Donnai, Dian
- Hennekam, Raoul
- Heron, Delphine
- Jacquemont, Sébastien
- Kannu, Peter
- Lin, Angela E
- Manouvrier-Hanu, Sylvie
- Mansour, Sahar
- Marlin, Sandrine
- McGowan, Ruth
- Murphy, Helen
- Raas-Rothschild, Annick
- Rio, Marlène
- Simon, Marleen
- Stolte-Dijkstra, Irene
- Stone, James R
- Sznajer, Yves
- Tolmie, John
- Touraine, Renaud
- van den Ende, Jenneke
- Van der Aa, Nathalie
- van Essen, Ton
- Verloes, Alain
- Munnich, Arnold
- Cormier-Daire, Valérie
Producer: 20150625
In:
European journal of human genetics : EJHG vol. 22
Availability: No items available.
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Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome. [electronic resource] by
- Maas, Saskia M
- Shaw, Adam C
- Bikker, Hennie
- Lüdecke, Hermann-Josef
- van der Tuin, Karin
- Badura-Stronka, Magdalena
- Belligni, Elga
- Biamino, Elisa
- Bonati, Maria Teresa
- Carvalho, Daniel R
- Cobben, JanMaarten
- de Man, Stella A
- Den Hollander, Nicolette S
- Di Donato, Nataliya
- Garavelli, Livia
- Grønborg, Sabine
- Herkert, Johanna C
- Hoogeboom, A Jeannette M
- Jamsheer, Aleksander
- Latos-Bielenska, Anna
- Maat-Kievit, Anneke
- Magnani, Cinzia
- Marcelis, Carlo
- Mathijssen, Inge B
- Nielsen, Maartje
- Otten, Ellen
- Ousager, Lilian B
- Pilch, Jacek
- Plomp, Astrid
- Poke, Gemma
- Poluha, Anna
- Posmyk, Renata
- Rieubland, Claudine
- Silengo, Margharita
- Simon, Marleen
- Steichen, Elisabeth
- Stumpel, Connie
- Szakszon, Katalin
- Polonkai, Edit
- van den Ende, Jenneke
- van der Steen, Antony
- van Essen, Ton
- van Haeringen, Arie
- van Hagen, Johanna M
- Verheij, Joke B G M
- Mannens, Marcel M
- Hennekam, Raoul C
Producer: 20160216
In:
European journal of medical genetics vol. 58
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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