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SNP array-based copy number and genotype analyses for preimplantation genetic diagnosis of human unbalanced translocations. [electronic resource] by
- van Uum, Chris M J
- Stevens, Servi J C
- Dreesen, Joseph C F M
- Drüsedau, Marion
- Smeets, Hubert J
- Hollanders-Crombach, Bertien
- Die-Smulders, Christine E M de
- Geraedts, Joep P M
- Engelen, John J M
- Coonen, Edith
Producer: 20121226
In:
European journal of human genetics : EJHG vol. 20
Availability: No items available.
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10.
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Partial monosomy 8p/trisomy 8q in a newborn infant due to a maternal three-way translocation: Clinical and cytogenetic comparison with San Luis Valley syndrome. [electronic resource] by
- Stevens, Servi J C
- Smeets, Eric E J G L
- van den Broek, Naomi
- Droog, Richard P
- Breukels, Mijke A
- Albrechts, Jozefa C M
- Rauh-van Delst, Marion
- Traa, Erik
- Lennarts, Melanie
- Janssen, Jannie W H
- Engelen, John J M
Producer: 20101115
In:
American journal of medical genetics. Part A vol. 152A
Availability: No items available.
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MYT1L is a candidate gene for intellectual disability in patients with 2p25.3 (2pter) deletions. [electronic resource] by
- Stevens, Servi J C
- van Ravenswaaij-Arts, Conny M A
- Janssen, Jannie W H
- Klein Wassink-Ruiter, Jolien S
- van Essen, Anthonie J
- Dijkhuizen, Trijnie
- van Rheenen, Jeroen
- Heuts-Vijgen, Regina
- Stegmann, Alexander P A
- Smeets, Eric E J G L
- Engelen, John J M
Producer: 20120209
In:
American journal of medical genetics. Part A vol. 155A
Availability: No items available.
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12.
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The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes. [electronic resource] by
- Paulussen, Aimée D C
- Schrander-Stumpel, Constance T
- Tserpelis, Demis C J
- Spee, Matteus K M
- Stegmann, Alexander P A
- Mancini, Grazia M
- Brooks, Alice S
- Collée, Margriet
- Maat-Kievit, Anneke
- Simon, Marleen E H
- van Bever, Yolande
- Stolte-Dijkstra, Irene
- Kerstjens-Frederikse, Wilhelmina S
- Herkert, Johanna C
- van Essen, Anthonie J
- Lichtenbelt, Klaske D
- van Haeringen, Arie
- Kwee, Mei L
- Lachmeijer, Augusta M A
- Tan-Sindhunata, Gita M B
- van Maarle, Merel C
- Arens, Yvonne H J M
- Smeets, Eric E J G L
- de Die-Smulders, Christine E
- Engelen, John J M
- Smeets, Hubertus J
- Herbergs, Jos
Producer: 20101202
In:
European journal of human genetics : EJHG vol. 18
Availability: No items available.
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