Results
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61.
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Mutations of the gene encoding otogelin are a cause of autosomal-recessive nonsyndromic moderate hearing impairment. [electronic resource] by
- Schraders, Margit
- Ruiz-Palmero, Laura
- Kalay, Ersan
- Oostrik, Jaap
- del Castillo, Francisco J
- Sezgin, Orhan
- Beynon, Andy J
- Strom, Tim M
- Pennings, Ronald J E
- Zazo Seco, Celia
- Oonk, Anne M M
- Kunst, Henricus P M
- Domínguez-Ruiz, María
- García-Arumi, Ana M
- del Campo, Miguel
- Villamar, Manuela
- Hoefsloot, Lies H
- Moreno, Felipe
- Admiraal, Ronald J C
- del Castillo, Ignacio
- Kremer, Hannie
Producer: 20130114
In:
American journal of human genetics vol. 91
Availability: No items available.
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62.
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Clinical Aspects of SDHA-Related Pheochromocytoma and Paraganglioma: A Nationwide Study. [electronic resource] by
- van der Tuin, Karin
- Mensenkamp, Arjen R
- Tops, Carli M J
- Corssmit, Eleonora P M
- Dinjens, Winand N
- van de Horst-Schrivers, Anouk N A
- Jansen, Jeroen C
- de Jong, Mirjam M
- Kunst, Henricus P M
- Kusters, Benno
- Leter, Edward M
- Morreau, Hans
- van Nesselrooij, Bernadette M P
- Oldenburg, Rogier A
- Spruijt, Liesbeth
- Hes, Frederik J
- Timmers, Henri J L M
Producer: 20180604
In:
The Journal of clinical endocrinology and metabolism vol. 103
Availability: No items available.
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63.
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The phenotype of [electronic resource] by
- Niemeijer, Nicolasine D
- Rijken, Johannes A
- Eijkelenkamp, Karin
- van der Horst-Schrivers, Anouk N A
- Kerstens, Michiel N
- Tops, Carli M J
- van Berkel, Anouk
- Timmers, Henri J L M
- Kunst, Henricus P M
- Leemans, C René
- Bisschop, Peter H
- Dreijerink, Koen M A
- van Dooren, Marieke F
- Bayley, Jean-Pierre
- Pereira, Alberto M
- Jansen, Jeroen C
- Hes, Frederik J
- Hensen, Erik F
- Corssmit, Eleonora P M
Producer: 20170829
In:
European journal of endocrinology vol. 177
Availability: No items available.
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64.
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Increased Mortality in [electronic resource] by
- Rijken, Johannes A
- van Hulsteijn, Leonie T
- Dekkers, Olaf M
- Niemeijer, Nicolasine D
- Leemans, C René
- Eijkelenkamp, Karin
- van der Horst-Schrivers, Anouk N A
- Kerstens, Michiel N
- van Berkel, Anouk
- Timmers, Henri J L M
- Kunst, Henricus P M
- Bisschop, Peter H L T
- Dreijerink, Koen M A
- van Dooren, Marieke F
- Hes, Frederik J
- Jansen, Jeroen C
- Corssmit, Eleonora P M
- Hensen, Erik F
Publication details: Cancers Jan 2019
In:
Cancers vol. 11
Availability: No items available.
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65.
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Karyotype-specific ear and hearing problems in young adults with Turner syndrome and the effect of oxandrolone treatment. [electronic resource] by
- Verver, Eva J J
- Freriks, Kim
- Sas, Theo C J
- Huygen, Patrick L M
- Pennings, Ronald J E
- Smeets, Dominique F C M
- Hermus, Ad R M M
- Menke, Leonie A
- Wit, Jan M
- Otten, Barto J
- van Alfen-van der Velden, Janiëlle A E M
- de Muinck Keizer-Schrama, Sabine M P F
- Topsakal, Vedat
- Admiraal, Ronald J C
- Timmers, Henri J L M
- Kunst, Henricus P M
Producer: 20150915
In:
Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology vol. 35
Availability: No items available.
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66.
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Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunction. [electronic resource] by
- Wesdorp, Mieke
- de Koning Gans, Pia A M
- Schraders, Margit
- Oostrik, Jaap
- Huynen, Martijn A
- Venselaar, Hanka
- Beynon, Andy J
- van Gaalen, Judith
- Piai, Vitória
- Voermans, Nicol
- van Rossum, Michelle M
- Hartel, Bas P
- Lelieveld, Stefan H
- Wiel, Laurens
- Verbist, Berit
- Rotteveel, Liselotte J
- van Dooren, Marieke F
- Lichtner, Peter
- Kunst, Henricus P M
- Feenstra, Ilse
- Admiraal, Ronald J C
- Yntema, Helger G
- Hoefsloot, Lies H
- Pennings, Ronald J E
- Kremer, Hannie
Producer: 20190128
In:
Human genetics vol. 137
Availability: No items available.
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67.
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SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma. [electronic resource] by
- Bayley, Jean-Pierre
- Kunst, Henricus P M
- Cascon, Alberto
- Sampietro, Maria Lourdes
- Gaal, José
- Korpershoek, Esther
- Hinojar-Gutierrez, Adolfo
- Timmers, Henri J L M
- Hoefsloot, Lies H
- Hermsen, Mario A
- Suárez, Carlos
- Hussain, A Karim
- Vriends, Annette H J T
- Hes, Frederik J
- Jansen, Jeroen C
- Tops, Carli M
- Corssmit, Eleonora P
- de Knijff, Peter
- Lenders, Jacques W M
- Cremers, Cor W R J
- Devilee, Peter
- Dinjens, Winand N M
- de Krijger, Ronald R
- Robledo, Mercedes
Producer: 20100416
In:
The Lancet. Oncology vol. 11
Availability: No items available.
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68.
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MPZL2, Encoding the Epithelial Junctional Protein Myelin Protein Zero-like 2, Is Essential for Hearing in Man and Mouse. [electronic resource] by
- Wesdorp, Mieke
- Murillo-Cuesta, Silvia
- Peters, Theo
- Celaya, Adelaida M
- Oonk, Anne
- Schraders, Margit
- Oostrik, Jaap
- Gomez-Rosas, Elena
- Beynon, Andy J
- Hartel, Bas P
- Okkersen, Kees
- Koenen, Hans J P M
- Weeda, Jack
- Lelieveld, Stefan
- Voermans, Nicol C
- Joosten, Irma
- Hoyng, Carel B
- Lichtner, Peter
- Kunst, Henricus P M
- Feenstra, Ilse
- de Bruijn, Suzanne E
- Admiraal, Ronald J C
- Yntema, Helger G
- van Wijk, Erwin
- Del Castillo, Ignacio
- Serra, Pau
- Varela-Nieto, Isabel
- Pennings, Ronald J E
- Kremer, Hannie
Producer: 20190514
In:
American journal of human genetics vol. 103
Availability: No items available.
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69.
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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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70.
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Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2. [electronic resource] by
- Zazo Seco, Celia
- Serrão de Castro, Luciana
- van Nierop, Josephine W
- Morín, Matías
- Jhangiani, Shalini
- Verver, Eva J J
- Schraders, Margit
- Maiwald, Nadine
- Wesdorp, Mieke
- Venselaar, Hanka
- Spruijt, Liesbeth
- Oostrik, Jaap
- Schoots, Jeroen
- van Reeuwijk, Jeroen
- Lelieveld, Stefan H
- Huygen, Patrick L M
- Insenser, María
- Admiraal, Ronald J C
- Pennings, Ronald J E
- Hoefsloot, Lies H
- Arias-Vásquez, Alejandro
- de Ligt, Joep
- Yntema, Helger G
- Jansen, Joop H
- Muzny, Donna M
- Huls, Gerwin
- van Rossum, Michelle M
- Lupski, James R
- Moreno-Pelayo, Miguel Angel
- Kunst, Henricus P M
- Kremer, Hannie
Producer: 20160225
In:
American journal of human genetics vol. 97
Availability: No items available.
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