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Hoefsloot, Lies H
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1

Response to the comment on Diderich et al. "The role of a m..:

Diderich, Karin E.M. ; Klapwijk, Jasmijn E. ; van der Schoot, Vyne...
European Journal of Medical Genetics.  67 (2024)  - p. 104884 , 2024
Link: https://doi.org/10.1016/..
 
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2

Identification of Rare Variants Involved in High Myopia Unr..:

Haarman, Annechien E.G. ; Klaver, Caroline C.W. ; Tedja, Milly S....
Ophthalmology Science.  3 (2023)  4 - p. 100303 , 2023
Link: https://doi.org/10.1016/..
 
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3

What proportion of couples with a history of recurrent preg..:

van Zutven, Laura J. C. M. ; Mijalkovic, Jona ; van Veghel-Plandsoen, Monique...
Molecular Cytogenetics.  16 (2023)  1 - p. , 2023
Link: https://doi.org/10.1186/..
 
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4

The role of a multidisciplinary team in managing variants o..:

Diderich, Karin E.M. ; Klapwijk, Jasmijn E. ; van der Schoot, Vyne...
European Journal of Medical Genetics.  66 (2023)  10 - p. 104844 , 2023
Link: https://doi.org/10.1016/..
 
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5

Early onset X‐linked female limited high myopia in three mu..:

Mazijk, Ralph ; Haarman, Annechien E.G. ; Hoefsloot, Lies H....
Human Mutation.  43 (2022)  3 - p. 380-388 , 2022
Link: https://doi.org/10.1002/..
 
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6

Whole exome sequencing of known eye genes reveals genetic c..:

Haarman, Annechien E G ; Thiadens, Alberta A H J ; van Tienhoven, Marianne...
Human Molecular Genetics.  31 (2022)  19 - p. 3290-3298 , 2022
Link: https://doi.org/10.1093/..
 
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7

Prenatal ultrasound finding of atypical genitalia: Counseli..:

van Bever, Yolande ; Groenenberg, Irene A. L. ; Knapen, Maarten F. C. M....
Prenatal Diagnosis.  43 (2022)  2 - p. 162-182 , 2022
Link: https://doi.org/10.1002/..
 
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8

High‐yield identification of pathogenicNF1variants by skin ..:

Douben, Hannie C. W. ; Nellist, Mark ; van Unen, Leontine...
Human Mutation.  43 (2022)  12 - p. 2130-2140 , 2022
Link: https://doi.org/10.1002/..
 
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9

Novel GAA Variants and Mosaicism in Pompe Disease Identifie..:

in 't Groen, Stijn L.M. ; de Faria, Douglas O.S. ; Iuliano, Alessandro...
Molecular Therapy - Methods & Clinical Development.  17 (2020)  - p. 337-348 , 2020
Link: https://doi.org/10.1016/..
 
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10

The potential diagnostic yield of whole exome sequencing in..:

Diderich, Karin E. M. ; Romijn, Kathleen ; Joosten, Marieke...
Acta Obstetricia et Gynecologica Scandinavica.  100 (2020)  6 - p. 1106-1115 , 2020
Link: https://doi.org/10.1111/..
 
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11

Social and medical need for whole genome high resolution NI..:

Srebniak, Malgorzata I. ; Knapen, Maarten F. C. M. ; Govaerts, Lutgarde C. P....
Molecular Genetics & Genomic Medicine.  8 (2019)  1 - p. , 2019
Link: https://doi.org/10.1002/..
 
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12

Placental studies elucidate discrepancies between NIPT show..:

Van Opstal, Diane ; van Veen, Stefanie ; Joosten, Marieke...
Prenatal Diagnosis.  39 (2019)  11 - p. 1016-1025 , 2019
Link: https://doi.org/10.1002/..
 
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13

Segmental and total uniparental isodisomy (UPiD) as a disea..:

Labrijn-Marks, Ineke ; Somers-Bolman, Galhana M. ; In 't Groen, Stijn L. M....
European Journal of Human Genetics.  27 (2019)  6 - p. 919-927 , 2019
Link: https://doi.org/10.1038/..
 
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14

Holoprosencephaly, orofacial cleft, and frontonaso‐orbital ..:

Richieri‐Costa, Antonio ; Zechi‐Ceide, Roseli M. ; Candido‐Souza, Rosana M....
American Journal of Medical Genetics Part A.  179 (2019)  11 - p. 2170-2177 , 2019
Link: https://doi.org/10.1002/..
 
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15

Mucolipidosis type III, a series of adult patients:

Oussoren, Esmee ; van Eerd, David ; Murphy, Elaine...
Journal of Inherited Metabolic Disease.  41 (2018)  5 - p. 839-848 , 2018
Link: https://doi.org/10.1007/..
 
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