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Neurophysiology versus clinical genetics in Rett syndrome: A multicenter study. [electronic resource] by
- Halbach, Nicky
- Smeets, Eric E
- Julu, Peter
- Witt-Engerström, Ingegerd
- Pini, Giorgio
- Bigoni, Stefania
- Hansen, Stig
- Apartopoulos, Flora
- Delamont, Robert
- van Roozendaal, Kees
- Scusa, Maria F
- Borelli, Paolo
- Candel, Math
- Curfs, Leopold
Producer: 20171019
In:
American journal of medical genetics. Part A vol. 170
Availability: No items available.
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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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20.
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Diagnostic exome sequencing in 100 consecutive patients with both epilepsy and intellectual disability. [electronic resource] by
- Snoeijen-Schouwenaars, Francesca M
- van Ool, Jans S
- Verhoeven, Judith S
- van Mierlo, Petra
- Braakman, Hilde M H
- Smeets, Eric E
- Nicolai, Joost
- Schoots, Jeroen
- Teunissen, Mariel W A
- Rouhl, Rob P W
- Tan, In Y
- Yntema, Helger G
- Brunner, Han G
- Pfundt, Rolph
- Stegmann, Alexander P
- Kamsteeg, Erik-Jan
- Schelhaas, Helenius J
- Willemsen, Marjolein H
Producer: 20200409
In:
Epilepsia vol. 60
Availability: No items available.
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