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Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype. [electronic resource] by
- Wade, Emma M
- Jenkins, Zandra A
- Daniel, Philip B
- Morgan, Tim
- Addor, Marie C
- Adés, Lesley C
- Bertola, Debora
- Bohring, Axel
- Carter, Erin
- Cho, Tae-Joon
- de Geus, Christa M
- Duba, Hans-Christoph
- Fletcher, Elaine
- Hadzsiev, Kinga
- Hennekam, Raoul C M
- Kim, Chong A
- Krakow, Deborah
- Morava, Eva
- Neuhann, Teresa
- Sillence, David
- Superti-Furga, Andrea
- Veenstra-Knol, Hermine E
- Wieczorek, Dagmar
- Wilson, Louise C
- Markie, David M
- Robertson, Stephen P
Publication details: American journal of medical genetics. Part A Jul 2017
In:
American journal of medical genetics. Part A vol. 173
Availability: No items available.
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The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands. [electronic resource] by
- Zazo Seco, Celia
- Wesdorp, Mieke
- Feenstra, Ilse
- Pfundt, Rolph
- Hehir-Kwa, Jayne Y
- Lelieveld, Stefan H
- Castelein, Steven
- Gilissen, Christian
- de Wijs, Ilse J
- Admiraal, Ronald Jc
- Pennings, Ronald Je
- Kunst, Henricus Pm
- van de Kamp, Jiddeke M
- Tamminga, Saskia
- Houweling, Arjan C
- Plomp, Astrid S
- Maas, Saskia M
- de Koning Gans, Pia Am
- Kant, Sarina G
- de Geus, Christa M
- Frints, Suzanna Gm
- Vanhoutte, Els K
- van Dooren, Marieke F
- van den Boogaard, Marie-José H
- Scheffer, Hans
- Nelen, Marcel
- Kremer, Hannie
- Hoefsloot, Lies
- Schraders, Margit
- Yntema, Helger G
Producer: 20170807
In:
European journal of human genetics : EJHG vol. 25
Availability: No items available.
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Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service. [electronic resource] by
- Westra, Dineke
- Schouten, Meyke I
- Stunnenberg, Bas C
- Kusters, Benno
- Saris, Christiaan G J
- Erasmus, Corrie E
- van Engelen, Baziel G
- Bulk, Saskia
- Verschuuren-Bemelmans, Corien C
- Gerkes, E H
- de Geus, Christa
- van der Zwaag, P A
- Chan, Sophelia
- Chung, Brian
- Barge-Schaapveld, Daniela Q C M
- Kriek, Marjolein
- Sznajer, Yves
- van Spaendonck-Zwarts, Karin
- van der Kooi, Anneke J
- Krause, Amanda
- Schönewolf-Greulich, Bitten
- de Die-Smulders, Christine
- Sallevelt, Suzanne C E H
- Krapels, Ingrid P C
- Rasmussen, Magnhild
- Maystadt, Isabelle
- Kievit, Anneke J A
- Witting, Nanna
- Pennings, Maartje
- Meijer, Rowdy
- Gillissen, Christian
- Kamsteeg, Erik-Jan
- Voermans, Nicol C
Producer: 20191216
In:
Journal of neuromuscular diseases vol. 6
Availability: No items available.
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