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Author/Creator Hoffer, Mariette J. V.

1. Biallelic variants in CENPF causing a phenotype distinct from Strømme syndrome. Issue 1 (30th April 2022)

Authors:
Cappuccio, Gerarda; Brillante, Simona; Tammaro, Roberta; Pinelli, Michele; De Bernardi, Margherita Lucia; Gensini, Maria Grazia; Bijlsma, Emilia K.; Koopmann, Tamara T.; Hoffer, Mariette J. V.; McDonald, Kimberly; Hendon, Laura G.; Douzgou, Sofia; Deshpande, Charulata; D'Arrigo, Stefano; Torella,...
Other Names:
Franco Brunella guestEditor.; Omran Heymut guestEditor.
Journal:
American journal of medical genetics
Issue:
Volume 190:Issue 1(2022)
Page Start:
102
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. Chromosomal abnormalities and copy number variations in fetal left‐sided congenital heart defects. (3rd February 2016)

Authors:
Jansen, Fenna A. R.; Hoffer, Mariette J. V.; van Velzen, Christine L.; Plati, Stephani Klingeman; Rijlaarsdam, Marry E. B.; Clur, Sally‐Ann B.; Blom, Nico A.; Pajkrt, Eva; Bhola, Shama L.; Knegt, Alida C.; de Boer, Marion A.; Haak, Monique C.
Journal:
Prenatal diagnosis
Issue:
Volume 36:Number 2(2016)
Page Start:
177
Record Type:
Journal Article
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3. Hearing loss, cleft palate, and congenital hip dysplasia in female carriers of an intragenic deletion of AMMECR1. Issue 5 (27th January 2022)

Authors:
Koene, Saskia; Knijnenburg, Jeroen; Hoffer, Mariette J. V.; Zwanenburg, Fleur; Haak, Monique C.; Locher, Heiko; van Beelen, Edward S. A.; Santen, Gijs W. E.; Rotteveel, Liselotte J. C.
Journal:
American journal of medical genetics
Issue:
Volume 188:Issue 5(2022)
Page Start:
1578
Record Type:
Journal Article
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4. NBEA: Developmental disease gene with early generalized epilepsy phenotypes. Issue 5 (25th October 2018)

Authors:
Mulhern, Maureen S.; Stumpel, Constance; Stong, Nicholas; Brunner, Han G.; Bier, Louise; Lippa, Natalie; Riviello, James; Rouhl, Rob P. W.; Kempers, Marlies; Pfundt, Rolph; Stegmann, Alexander P. A.; Kukolich, Mary K.; Telegrafi, Aida; Lehman, Anna; Lopez‐Rangel, Elena; Houcinat, Nada; Barth, Mag...
Journal:
Annals of neurology
Issue:
Volume 84:Issue 5(2018)
Page Start:
788
Record Type:
Journal Article
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5. Non‐invasive prenatal diagnosis for translocation carriers—YES please or NO go?. (1st September 2021)

Authors:
Srebniak, Malgorzata I.; Jehee, Fernanda S.; Joosten, Marieke; Boter, Marjan; de Valk, Walter G.; van der Helm, Robert; Sistermans, Erik A.; Voorhoeve, Els; Bhola, Shama; Hoffer, Mariette J. V.; den Hollander, Nicolette; Macville, Merryn V. E.; Van Opstal, Diane
Journal:
Acta obstetricia et gynecologica Scandinavica
Issue:
Volume 100:Number 11(2021)
Page Start:
2036
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗