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A gain-of-function TBX5 mutation is associated with atypical Holt-Oram syndrome and paroxysmal atrial fibrillation. [electronic resource] by
- Postma, Alex V
- van de Meerakker, Judith B A
- Mathijssen, Inge B
- Barnett, Phil
- Christoffels, Vincent M
- Ilgun, Aho
- Lam, Jan
- Wilde, Arthur A M
- Lekanne Deprez, Ronald H
- Moorman, Antoon F M
Producer: 20080612
In:
Circulation research vol. 102
Availability: No items available.
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12.
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Functional analysis of novel TBX5 T-box mutations associated with Holt-Oram syndrome. [electronic resource] by
- Boogerd, Cornelis J J
- Dooijes, Dennis
- Ilgun, Aho
- Mathijssen, Inge B
- Hordijk, Roel
- van de Laar, Ingrid M B H
- Rump, Patrick
- Veenstra-Knol, Hermine E
- Moorman, Antoon F M
- Barnett, Phil
- Postma, Alex V
Producer: 20110111
In:
Cardiovascular research vol. 88
Availability: No items available.
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13.
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LONG-TERM FOLLOW-UP OF PATIENTS WITH RETINITIS PIGMENTOSA TYPE 12 CAUSED BY CRB1 MUTATIONS: A Severe Phenotype With Considerable Interindividual Variability. [electronic resource] by
- Mathijssen, Inge B
- Florijn, Ralph J
- van den Born, L Ingeborgh
- Zekveld-Vroon, Renate C
- Ten Brink, Jacoline B
- Plomp, Astrid S
- Baas, Frank
- Meijers-Heijboer, Hanne
- Bergen, Arthur A B
- van Schooneveld, Mary J
Producer: 20170425
In:
Retina (Philadelphia, Pa.) vol. 37
Availability: No items available.
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14.
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Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposis. [electronic resource] by
- van Dijk, Tessa
- Ferdinandusse, Sacha
- Ruiter, Jos P N
- Alders, Mariëlle
- Mathijssen, Inge B
- Parboosingh, Jillian S
- Innes, A Micheil
- Meijers-Heijboer, Hanne
- Poll-The, Bwee Tien
- Bernier, Francois P
- Wanders, Ronald J A
- Lamont, Ryan E
- Baas, Frank
Producer: 20190328
In:
European journal of human genetics : EJHG vol. 26
Availability: No items available.
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15.
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Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence. [electronic resource] by
- Tan-Sindhunata, M Brigita
- Mathijssen, Inge B
- Smit, Margriet
- Baas, Frank
- de Vries, Johanna I
- van der Voorn, J Patrick
- Kluijt, Irma
- Hagen, Marleen A
- Blom, Eveline W
- Sistermans, Erik
- Meijers-Heijboer, Hanne
- Waisfisz, Quinten
- Weiss, Marjan M
- Groffen, Alexander J
Producer: 20160524
In:
European journal of human genetics : EJHG vol. 23
Availability: No items available.
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16.
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A novel autosomal dominant condition consisting of congenital heart defects and low atrial rhythm maps to chromosome 9q. [electronic resource] by
- van de Meerakker, Judith B A
- van Engelen, Klaartje
- Mathijssen, Inge B
- Lekanne dit Deprez, Ronald H
- Lam, Jan
- Wilde, Arthur A M
- Baars, Marieke J H
- Mannens, Marcel M A M
- Mulder, Barbara J M
- Moorman, Antoon F M
- Postma, Alex V
Producer: 20111005
In:
European journal of human genetics : EJHG vol. 19
Availability: No items available.
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17.
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Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings. [electronic resource] by
- Croonen, Ellen A
- Nillesen, Willy M
- Stuurman, Kyra E
- Oudesluijs, Gretel
- van de Laar, Ingrid M B M
- Martens, Liesbeth
- Ockeloen, Charlotte
- Mathijssen, Inge B
- Schepens, Marga
- Ruiterkamp-Versteeg, Martina
- Scheffer, Hans
- Faas, Brigitte H W
- van der Burgt, Ineke
- Yntema, Helger G
Producer: 20140324
In:
European journal of human genetics : EJHG vol. 21
Availability: No items available.
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18.
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Genotype-phenotype correlation in patients suspected of having Sotos syndrome. [electronic resource] by
- de Boer, Lonneke
- Kant, Sarina G
- Karperien, Marcel
- van Beers, Lotte
- Tjon, Jennifer
- Vink, Geraldine R
- van Tol, Dewy
- Dauwerse, Hans
- le Cessie, Saskia
- Beemer, Frits A
- van der Burgt, Ineke
- Hamel, Ben C J
- Hennekam, Raoul C
- Kuhnle, Ursula
- Mathijssen, Inge B
- Veenstra-Knol, Hermine E
- Stumpel, Connie T Schrander
- Breuning, Martijn H
- Wit, Jan M
Producer: 20050222
In:
Hormone research vol. 62
Availability: No items available.
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19.
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The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families. [electronic resource] by
- Fountain, Michael D
- Aten, Emmelien
- Cho, Megan T
- Juusola, Jane
- Walkiewicz, Magdalena A
- Ray, Joseph W
- Xia, Fan
- Yang, Yaping
- Graham, Brett H
- Bacino, Carlos A
- Potocki, Lorraine
- van Haeringen, Arie
- Ruivenkamp, Claudia A L
- Mancias, Pedro
- Northrup, Hope
- Kukolich, Mary K
- Weiss, Marjan M
- van Ravenswaaij-Arts, Conny M A
- Mathijssen, Inge B
- Levesque, Sebastien
- Meeks, Naomi
- Rosenfeld, Jill A
- Lemke, Danielle
- Hamosh, Ada
- Lewis, Suzanne K
- Race, Simone
- Stewart, Laura L
- Hay, Beverly
- Lewis, Andrea M
- Guerreiro, Rita L
- Bras, Jose T
- Martins, Marcia P
- Derksen-Lubsen, Gerarda
- Peeters, Els
- Stumpel, Connie
- Stegmann, Sander
- Bok, Levinus A
- Santen, Gijs W E
- Schaaf, Christian P
Producer: 20171207
In:
Genetics in medicine : official journal of the American College of Medical Genetics vol. 19
Availability: No items available.
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20.
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Variants in CUL4B are associated with cerebral malformations. [electronic resource] by
- Vulto-van Silfhout, Anneke T
- Nakagawa, Tadashi
- Bahi-Buisson, Nadia
- Haas, Stefan A
- Hu, Hao
- Bienek, Melanie
- Vissers, Lisenka E L M
- Gilissen, Christian
- Tzschach, Andreas
- Busche, Andreas
- Müsebeck, Jörg
- Rump, Patrick
- Mathijssen, Inge B
- Avela, Kristiina
- Somer, Mirja
- Doagu, Fatma
- Philips, Anju K
- Rauch, Anita
- Baumer, Alessandra
- Voesenek, Krysta
- Poirier, Karine
- Vigneron, Jacqueline
- Amram, Daniel
- Odent, Sylvie
- Nawara, Magdalena
- Obersztyn, Ewa
- Lenart, Jacek
- Charzewska, Agnieszka
- Lebrun, Nicolas
- Fischer, Ute
- Nillesen, Willy M
- Yntema, Helger G
- Järvelä, Irma
- Ropers, Hans-Hilger
- de Vries, Bert B A
- Brunner, Han G
- van Bokhoven, Hans
- Raymond, F Lucy
- Willemsen, Michèl A A P
- Chelly, Jamel
- Xiong, Yue
- Barkovich, A James
- Kalscheuer, Vera M
- Kleefstra, Tjitske
- de Brouwer, Arjan P M
Producer: 20150910
In:
Human mutation vol. 36
Availability: No items available.
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