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Journal of bone and mineral research, 2011-03, Vol.26 (3), p.666-672
2011
Link zum Volltext
American journal of medical genetics. Part A, 2023-04, Vol.191 (4), p.995-1006
- Bergman, Jorieke E. H.
- Barišić, Ingeborg
- Addor, Marie‐Claude
- Braz, Paula
- Cavero‐Carbonell, Clara
- Draper, Elizabeth S.
- Echevarría‐González‐de‐Garibay, Luis J.
- Gatt, Miriam
- Haeusler, Martin
- Khoshnood, Babak
- Klungsøyr, Kari
- Kurinczuk, Jennifer J.
- Latos‐Bielenska, Anna
- Luyt, Karen
- Martin, Danielle
- Mullaney, Carmel
- Nelen, Vera
- Neville, Amanda J.
- O'Mahony, Mary T.
- Perthus, Isabelle
- Pierini, Anna
- Randrianaivo, Hanitra
- Rankin, Judith
- Rissmann, Anke
- Rouget, Florence
- Sayers, Gerardine
- Schaub, Bruno
- Stevens, Sarah
- Tucker, David
- Verellen‐Dumoulin, Christine
- Wiesel, Awi
- Gerkes, Erica H.
- Perraud, Annie
- Loane, Maria A.
- Wellesley, Diana
- Walle, Hermien E. K.
2023
Link zum Volltext
American journal of medical genetics. Part A, 2019-04, Vol.179 (4), p.595-601
- Wang, Hao
- Barisic, Ingeborg
- Loane, Maria
- Addor, Marie‐Claude
- Bailey, Linda M.
- Gatt, Miriam
- Klungsoyr, Kari
- Mokoroa, Olatz
- Nelen, Vera
- Neville, Amanda J.
- O'Mahony, Mary
- Pierini, Anna
- Rissmann, Anke
- Verellen‐Dumoulin, Christine
- Walle, Hermien E.K.
- Wiesel, Awi
- Wisniewska, Katarzyna
- Jong‐van den Berg, Lolkje T.W.
- Dolk, Helen
- Khoshnood, Babak
- Garne, Ester
2019
Link zum Volltext
Paediatric and perinatal epidemiology, 2020-03, Vol.34 (2), p.122-129
- Best, Kate E.
- Rankin, Judith
- Dolk, Helen
- Loane, Maria
- Haeusler, Martin
- Nelen, Vera
- Verellen‐Dumoulin, Christine
- Garne, Ester
- Sayers, Gerardine
- Mullaney, Carmel
- O'Mahony, Mary T.
- Gatt, Miriam
- De Walle, Hermien
- Klungsoyr, Kari
- Carolla, Olatz Mokoroa
- Cavero‐Carbonell, Clara
- Kurinczuk, Jennifer J.
- Draper, Elizabeth S.
- Tucker, David
- Wellesley, Diana
- Zymak‐Zakutnia, Nataliia
- Lelong, Nathalie
- Khoshnood, Babak
2020
Link zum Volltext
Birth defects research. A Clinical and molecular teratology, 2014-04, Vol.100 (4), p.270-276
- Calzolari, Elisa
- Barisic, Ingeborg
- Loane, Maria
- Morris, Joan
- Wellesley, Diana
- Dolk, Helen
- Addor, Marie-Claude
- Arriola, Larraitz
- Bianchi, Fabrizio
- Neville, Amanda J.
- Budd, Judith L.S.
- Klungsoyr, Kari
- Khoshnood, Babak
- McDonnell, Bob
- Nelen, Vera
- Queisser-Luft, Annette
- Rankin, Judith
- Rissmann, Anke
- Rounding, Catherine
- Tucker, David
- Verellen-Dumoulin, Christine
- de Walle, Hermien
- Garne, Ester
2014
Link zum Volltext
BMJ (Online), 2015-11, Vol.351, p.h5949
- Khoshnood, Babak
- Loane, Maria
- de Walle, Hermien
- Arriola, Larraitz
- Addor, Marie-Claude
- Barisic, Ingeborg
- Beres, Judit
- Bianchi, Fabrizio
- Dias, Carlos
- Draper, Elizabeth
- Garne, Ester
- Gatt, Miriam
- Haeusler, Martin
- Klungsoyr, Kari
- Latos-Bielenska, Anna
- Lynch, Catherine
- McDonnell, Bob
- Nelen, Vera
- Neville, Amanda J
- O'Mahony, Mary T
- Queisser-Luft, Annette
- Rankin, Judith
- Rissmann, Anke
- Ritvanen, Annukka
- Rounding, Catherine
- Sipek, Antonin
- Tucker, David
- Verellen-Dumoulin, Christine
- Wellesley, Diana
- Dolk, Helen
2015
Link zum Volltext
PloS one, 2018-04, Vol.13 (4), p.e0194986
- Morris, Joan K
- Springett, Anna L
- Greenlees, Ruth
- Loane, Maria
- Addor, Marie-Claude
- Arriola, Larraitz
- Barisic, Ingeborg
- Bergman, Jorieke E H
- Csaky-Szunyogh, Melinda
- Dias, Carlos
- Draper, Elizabeth S
- Garne, Ester
- Gatt, Miriam
- Khoshnood, Babak
- Klungsoyr, Kari
- Lynch, Catherine
- McDonnell, Robert
- Nelen, Vera
- Neville, Amanda J
- O'Mahony, Mary
- Pierini, Anna
- Queisser-Luft, Annette
- Randrianaivo, Hanitra
- Rankin, Judith
- Rissmann, Anke
- Kurinczuk, Jennifer
- Tucker, David
- Verellen-Dumoulin, Christine
- Wellesley, Diana
- Dolk, Helen
- Palazón-Bru, Antonio
2018
Link zum Volltext
A three generation X-linked family with Kabuki syndrome phenotype and a frameshift mutation in KDM6A
2014
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BMJ (Online), 2016-09, Vol.354, p.i4721
- Morris, Joan K
- Rankin, Judith
- Garne, Ester
- Loane, Maria
- Greenlees, Ruth
- Addor, Marie-Claude
- Arriola, Larraitz
- Barisic, Ingeborg
- Bergman, Jorieke E H
- Csaky-Szunyogh, Melinda
- Dias, Carlos
- Draper, Elizabeth S
- Gatt, Miriam
- Khoshnood, Babak
- Klungsoyr, Kari
- Kurinczuk, Jennifer J
- Lynch, Catherine
- McDonnell, Robert
- Nelen, Vera
- Neville, Amanda J
- O'Mahony, Mary T
- Pierini, Anna
- Randrianaivo, Hanitra
- Rissmann, Anke
- Tucker, David
- Verellen-Dumoulin, Christine
- de Walle, Hermien E K
- Wellesley, Diana
- Wiesel, Awi
- Dolk, Helen
2016
Link zum Volltext
European journal of human genetics : EJHG, 2018-01, Vol.26 (1), p.64-74
- Moortgat, Stéphanie
- Berland, Siren
- Aukrust, Ingvild
- Maystadt, Isabelle
- Baker, Laura
- Benoit, Valerie
- Caro-Llopis, Alfonso
- Cooper, Nicola S
- Debray, François-Guillaume
- Faivre, Laurence
- Gardeitchik, Thatjana
- Haukanes, Bjørn I
- Houge, Gunnar
- Kivuva, Emma
- Martinez, Francisco
- Mehta, Sarju G
- Nassogne, Marie-Cécile
- Powell-Hamilton, Nina
- Pfundt, Rolph
- Rosello, Monica
- Prescott, Trine
- Vasudevan, Pradeep
- van Loon, Barbara
- Verellen-Dumoulin, Christine
- Verloes, Alain
- Lippe, Charlotte von der
- Wakeling, Emma
- Wilkie, Andrew O M
- Wilson, Louise
- Yuen, Amy
- Study, Ddd
- Low, Karen J
- Newbury-Ecob, Ruth A
2018
Link zum Volltext
Birth defects research. A Clinical and molecular teratology, 2011-03, Vol.91 (S1), p.S51-S100
- Greenlees, Ruth
- Neville, Amanda
- Addor, Marie-Claude
- Amar, Emmanuelle
- Arriola, Larraitz
- Bakker, Marian
- Barisic, Ingeborg
- Boyd, Patricia A.
- Calzolari, Elisa
- Doray, Berenice
- Draper, Elizabeth
- Emil Vollset, Stein
- Garne, Ester
- Gatt, Miriam
- Haeusler, Martin
- Kallen, Karin
- Khoshnood, Babak
- Latos-Bielenska, Anna
- Martinez-Frias, Maria-Luisa
- Materna-Kiryluk, Anna
- Matias Dias, Carlos
- McDonnell, Bob
- Mullaney, Carmel
- Nelen, Vera
- O'Mahony, Mary
- Pierini, Anna
- Queisser-Luft, Annette
- Randrianaivo-Ranjatoélina, Hanitra
- Rankin, Judith
- Rissmann, Anke
- Ritvanen, Annukka
- Salvador, Joaquin
- Sipek, Antonin
- Tucker, David
- Verellen-Dumoulin, Christine
- Wellesley, Diana
- Wertelecki, Wladimir
2011
Link zum Volltext
Frontiers in pediatrics, 2021-06, Vol.9, p.647038-647038
- Morris, Joan K.
- Addor, Marie-Claude
- Ballardini, Elisa
- Barisic, Ingeborg
- Barrachina-Bonet, Laia
- Braz, Paula
- Cavero-Carbonell, Clara
- Den Hond, Elly
- Garne, Ester
- Gatt, Miriam
- Haeusler, Martin
- Khoshnood, Babak
- Lelong, Nathalie
- Kinsner-Ovaskainen, Agnieszka
- Kiuru-Kuhlefelt, Sonja
- Klungsoyr, Kari
- Latos-Bielenska, Anna
- Limb, Elizabeth
- O'Mahony, Mary T
- Perthus, Isabelle
- Pierini, Anna
- Rankin, Judith
- Rissmann, Anke
- Rouget, Florence
- Sayers, Gerardine
- Sipek, Antonin
- Stevens, Sarah
- Tucker, David
- Verellen-Dumoulin, Christine
- de Walle, Hermien E. K.
- Wellesley, Diana
- Wertelecki, Wladimir
- Bermejo-Sanchez, Eva
2021
Link zum Volltext
American journal of medical genetics. Part A, 2013-05, Vol.161A (5), p.1012-1018
- Barisic, Ingeborg
- Odak, Ljubica
- Loane, Maria
- Garne, Ester
- Wellesley, Diana
- Calzolari, Elisa
- Dolk, Helen
- Addor, Marie-Claude
- Arriola, Larraitz
- Bergman, Jorieke
- Bianca, Sebastiano
- Boyd, Patricia A.
- Draper, Elizabeth S
- Gatt, Miriam
- Haeusler, Martin
- Khoshnood, Babak
- Latos-Bielenska, Anna
- McDonnell, Bob
- Pierini, Anna
- Rankin, Judith
- Rissmann, Anke
- Queisser-Luft, Annette
- Verellen-Dumoulin, Christine
- Stone, David
- Tenconi, Romano
2013
Link zum Volltext
Birth defects research. A Clinical and molecular teratology, 2016-06, Vol.106 (6), p.480-488
- Cavadino, Alana
- Prieto-Merino, David
- Addor, Marie-Claude
- Arriola, Larraitz
- Bianchi, Fabrizio
- Draper, Elizabeth
- Garne, Ester
- Greenlees, Ruth
- Haeusler, Martin
- Khoshnood, Babak
- Kurinczuk, Jenny
- McDonnell, Bob
- Nelen, Vera
- O'Mahony, Mary
- Randrianaivo, Hanitra
- Rankin, Judith
- Rissmann, Anke
- Tucker, David
- Verellen-Dumoulin, Christine
- de Walle, Hermien
- Wellesley, Diana
- Morris, Joan K.
2016
Link zum Volltext
American journal of medical genetics. Part A, 2012-11, Vol.158A (11), p.2899-2904
2012
Link zum Volltext
The Journal of pediatrics, 2013, Vol.162 (1), p.108-113.e2
- Khoshnood, Babak, MD, PhD
- Loane, Maria, MSc
- Garne, Ester, MD
- Addor, Marie-Claude, MD
- Arriola, Larraitz, MD
- Bakker, Marian, PhD
- Barisic, Ingeborg, MD
- Bianca, Sebastiano, MD
- Boyd, Patricia, MD
- Calzolari, Elisa, MD
- Doray, Berenice, MD
- Draper, Elizabeth, PhD
- Gatt, Miriam, MD
- Haeusler, Martin, MD
- Melve, Kari Klungsoyr, MD
- Latos-Bielenska, Anna, MD
- McDonnell, Bob, MD
- Mullaney, Carmel, MD
- Nelen, Vera, MD
- O'Mahony, Mary, MD
- Pierini, Anna, MD
- Queisser-Luft, Annette, MD
- Randrianaivo, Hanitra, MD
- Rankin, Judith, PhD
- Rissmann, Anke, MD
- Salvador, Joaquin, MD
- Tucker, David, MPH
- Verellen-Dumoulin, Christine, MD
- Wellesley, Diana, MD
- Zymak-Zakutnya, Natalya, MD
- Dolk, Helen, DrPH
2013
Link zum Volltext
Birth defects research. A Clinical and molecular teratology, 2014-04, Vol.100 (4), p.260-269
- Luteijn, Johannes Michiel
- Dolk, Helen
- Addor, Marie-Claude
- Arriola, Larraitz
- Barisic, Ingeborg
- Bianchi, Fabrizio
- Calzolari, Elisa
- Draper, Elizabeth
- Garne, Ester
- Gatt, Miriam
- Haeusler, Martin
- Khoshnood, Babak
- McDonnell, Bob
- Nelen, Vera
- O'Mahony, Mary
- Mullaney, Carmel
- Queisser-Luft, Annette
- Rankin, Judith
- Tucker, David
- Verellen-Dumoulin, Christine
- de Walle, Hermien
- Yevtushok, Lyubov
2014
Link zum Volltext
Circulation (New York, N.Y.), 2011-03, Vol.123 (8), p.841-849
2011
Link zum Volltext
American journal of medical genetics. Part A, 2012-06, Vol.158A (6), p.1509-1511
2012
Link zum Volltext
Nature genetics, 1994-09, Vol.8 (1), p.77-82
1994
Link zum Volltext
Chest, 2001-03, Vol.119 (3), p.762-767
2001
Link zum Volltext
Clinical genetics, 2013-03, Vol.83 (3), p.221-231
2013
Link zum Volltext
Birth defects research. A Clinical and molecular teratology, 2011-03, Vol.91 (S1), p.S31-S43
2011
Link zum Volltext
Birth defects research. A Clinical and molecular teratology, 2011-03, Vol.91 (S1), p.S16-S22
2011
Link zum Volltext
European journal of human genetics : EJHG, 2011-02, Vol.19 (2), p.231-234
2011
Link zum Volltext
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