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2016, ISBN 1118981537, 1215
eBook
11/2015, ISBN 9781118981528, 2122
Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment, Seventh Edition is the eagerly awaited new edition of the discipline-leading text that... 
Prenatal diagnosis
eBook
2009, 6th ed., ISBN 9781444314359, 1194
eBook
Journal of Fetal Medicine, ISSN 2348-1153, 6/2016, Volume 3, Issue 2, pp. 51 - 53
Journal Article
Pediatrics, ISSN 0031-4005, 04/2010, Volume 125, Issue 4, pp. e727 - e735
Journal Article
by Santen, Gijs W. E and Aten, Emmelien and Vulto-van Silfhout, Anneke T and Pottinger, Caroline and van Bon, Bregje W. M and van Minderhout, Ivonne J. H. M and Snowdowne, Ronelle and van der Lans, Christian A. C and Boogaard, Merel and Linssen, Margot M. L and Vijfhuizen, Linda and van der Wielen, Michiel J. R and Vollebregt, M. J. Ellen and Breuning, Martijn H and Kriek, Marjolein and van Haeringen, Arie and den Dunnen, Johan T and Hoischen, Alexander and Clayton-Smith, Jill and de Vries, Bert B. A and Hennekam, Raoul C. M and van Belzen, Martine J and Almureikhi, Mariam and Baban, Anwar and Barbosa, Mafalda and Ben-Omran, Tawfeg and Berry, Katherine and Bigoni, Stefania and Boute, Odile and Brueton, Louise and van der Burgt, Ineke and Canham, Natalie and Chandler, Kate E and Chrzanowska, Krystyna and Collins, Amanda L and de Toni, Teresa and Dean, John and den Hollander, Nicolette S and Flore, Leigh Anne and Fryer, Alan and Gardham, Alice and Graham, John M and Harrison, Victoria and Horn, Denise and Jongmans, Marjolijn C and Josifova, gana and Kant, Sarina G and Kapoor, Seema and Kingston, Helen and Kini, Usha and Kleefstra, Tjitske and Krajewska-Walasek, Małgorzata and Kramer, Nancy and Maas, Saskia M and Maciel, Patricia and Mancini, Grazia M. S and Maystadt, Isabelle and McKee, Shane and Milunsky, Jeff M and Nampoothiri, Sheela and Newbury-Ecob, Ruth and Nikkel, Sarah M and Parker, Michael J and Pérez-Jurado, Luis A and Robertson, Stephen P and Rooryck, Caroline and Shears, Debbie and Silengo, Margherita and Singh, Ankur and Smigiel, Robert and Soares, Gabriela and Splitt, Miranda and Stewart, Helen and Sweeney, Elizabeth and Tassabehji, May and Tuysuz, Beyhan and van Eerde, Albertien M and Vincent-Delorme, Catherine and Wilson, Louise C and Yesil, Gozde and Coffin-Siris Consortium and Coffin-Siris consortium and the Coffin-Siris consortium
Human mutation, ISSN 1059-7794, 2013, Volume 34, Issue 11, pp. 1519 - 1528
Journal Article
Journal of Child Neurology, ISSN 0883-0738, 07/2016, Volume 31, Issue 8, pp. 1057 - 1061
Journal Article
Clinical genetics, ISSN 0009-9163, 08/2019
Chronic Intestinal Pseudo-Obstruction (CIPO) is a rare gastrointestinal disorder, which affects the smooth muscle contractions of the gastrointestinal tract.... 
Journal Article
Microarrays, 03/2016, Volume 5, Issue 1, p. 2
  Split hand/foot malformation (SHFM) is a limb malformation with underdeveloped or absent central digital rays, clefts of hands and feet, and variable... 
Journal Article
Prenatal Diagnosis, ISSN 0197-3851, 12/2017, Volume 37, Issue 12, pp. 1254 - 1256
What's already known about this topic? Pathogenic variants in the ACTG2 gene cause highly variable autosomal dominant phenotypes from intestinal... 
MEGACYSTIS | HYPOPERISTALSIS SYNDROME | GENETICS & HEREDITY | OBSTETRICS & GYNECOLOGY | Pregnant women | Prenatal diagnosis | Urinary bladder | Intestine | Fetuses | Point mutation | Bladder | Mosaicism | Diagnosis | Medical diagnosis | Constipation
Journal Article
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 05/2017, Volume 100, Issue 5, pp. 773 - 788
Journal Article
Journal of the American Dental Association, ISSN 0002-8177, 03/2017, Volume 148, Issue 3, pp. 157 - 157
BACKGROUND AND OVERVIEW: Lacrimo-auriculo-dento-digital (LADD) syndrome is an autosomal dominant disorder with variable lacrimal and salivary gland hypoplasia... 
Journal Article
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