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	1.	Hidden mosaicism for a structural chromosome rearrangement: a rare explanation for recurrent miscarriages and affected offspring? [electronic resource] by Kouru, Katarina Haapaniemi Malmgren, Helena White, Irene Blennow, Elisabeth Producer: 20110228 In: Fertility and sterility vol. 95 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Distal 3p deletion syndrome: detailed molecular cytogenetic and clinical characterization of three small distal deletions and review. [electronic resource] by Malmgren, Helena Sahlén, Sigrid Wide, Katarina Lundvall, Mikael Blennow, Elisabeth Producer: 20071213 In: American journal of medical genetics. Part A vol. 143A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Small mosaic deletion encompassing the snoRNAs and SNURF-SNRPN results in an atypical Prader-Willi syndrome phenotype. [electronic resource] by Anderlid, Britt-Marie Lundin, Johanna Malmgren, Helena Lehtihet, Mikael Nordgren, Ann Producer: 20140911 In: American journal of medical genetics. Part A vol. 164A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	[Proposal for ethical guidelines concerning preimplantation genetic diagnosis]. [electronic resource] by Wahlström, Jan Blennow, Elisabeth Nilsson, Lars Malmgren, Helena Munthe, Christian Westerholm, Barbro Producer: 20020604 In: Lakartidningen vol. 99 Availability: No items available. Save to lists Add to cart (remove)
	5.	Meiotic segregation analyses of reciprocal translocations in spermatozoa and embryos: no support for predictive value regarding PGD outcome. [electronic resource] by Haapaniemi Kouru, Katarina Malmgren, Helena White, Irene Rodriguez Sanchez, Ana Syk Lundberg, Elisabeth Producer: 20180327 In: Reproductive biomedicine online vol. 34 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Expanding the ataxia with oculomotor apraxia type 4 phenotype. [electronic resource] by Paucar, Martin Malmgren, Helena Taylor, Malcolm Reynolds, John J Svenningsson, Per Press, Rayomand Nordgren, Ann Producer: 20160412 In: Neurology. Genetics vol. 2 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Inherited mosaicism for the supernumerary marker chromosome in cat eye syndrome: inter- and intra-individual variation and correlation to the phenotype. [electronic resource] by Kvarnung, Malin Lindstrand, Anna Malmgren, Helena Thåström, Anders Jacobson, Lena Dahl, Niklas Lundin, Johanna Blennow, Elisabeth Producer: 20121026 In: American journal of medical genetics. Part A vol. 158A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Compound heterozygous HAX1 mutations in a Swedish patient with severe congenital neutropenia and no neurodevelopmental abnormalities. [electronic resource] by Carlsson, Göran Elinder, Göran Malmgren, Helena Trebinska, Alicja Grzybowska, Ewa Dahl, Niklas Nordenskjöld, Magnus Fadeel, Bengt Producer: 20091013 In: Pediatric blood & cancer vol. 53 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	In vivo differentiated human embryonic stem cells can acquire chromosomal aberrations more frequently than in vitro during the same period. [electronic resource] by Zucchelli, Marco Ström, Susanne Holm, Frida Malmgren, Helena Sahlén, Sigrid Religa, Piotr Hovatta, Outi Kere, Juha Inzunza, José Producer: 20130620 In: Stem cells and development vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	Pathogenenic variant in the COL2A1 gene is associated with Spondyloepiphyseal dysplasia type Stanescu. [electronic resource] by Hammarsjö, Anna Nordgren, Ann Lagerstedt-Robinson, Kristina Malmgren, Helena Nilsson, Daniel Wedrén, Sara Nordenskjöld, Magnus Nishimura, Gen Grigelioniene, Giedre Producer: 20161019 In: American journal of medical genetics. Part A vol. 170A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	A novel approach using long-read sequencing and ddPCR to investigate gonadal mosaicism and estimate recurrence risk in two families with developmental disorders. [electronic resource] by Wilbe, Maria Gudmundsson, Sanna Johansson, Josefin Ameur, Adam Stattin, Eva-Lena Annerén, Göran Malmgren, Helena Frykholm, Carina Bondeson, Marie-Louise Producer: 20180712 In: Prenatal diagnosis vol. 37 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	GSTM1 gene expression correlates to leiomyoma volume regression in response to mifepristone treatment. [electronic resource] by Engman, Mikael Varghese, Suby Lagerstedt Robinson, Kristina Malmgren, Helena Hammarsjö, Anna Byström, Birgitta Lalitkumar, Parameswaran Grace L Gemzell-Danielsson, Kristina Producer: 20140908 In: PloS one vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	Molecular and clinical characterization of patients with overlapping 10p deletions. [electronic resource] by Lindstrand, Anna Malmgren, Helena Verri, Annapia Benetti, Elisa Eriksson, Maud Nordgren, Ann Anderlid, Britt-Marie Golovleva, Irina Schoumans, Jacqueline Blennow, Elisabeth Producer: 20100812 In: American journal of medical genetics. Part A vol. 152A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	14.	Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features. [electronic resource] by Tham, Emma Lindstrand, Anna Santani, Avni Malmgren, Helena Nesbitt, Addie Dubbs, Holly A Zackai, Elaine H Parker, Michael J Millan, Francisca Rosenbaum, Kenneth Wilson, Golder N Nordgren, Ann Producer: 20150512 In: American journal of human genetics vol. 96 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	15.	A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9. [electronic resource] by Tham, Emma Eklund, Erik A Hammarsjö, Anna Bengtson, Per Geiberger, Stefan Lagerstedt-Robinson, Kristina Malmgren, Helena Nilsson, Daniel Grigelionis, Gintautas Conner, Peter Lindgren, Peter Lindstrand, Anna Wedell, Anna Albåge, Margareta Zielinska, Katarzyna Nordgren, Ann Papadogiannakis, Nikos Nishimura, Gen Grigelioniene, Giedre Producer: 20161007 In: European journal of human genetics : EJHG vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	16.	Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations. [electronic resource] by Ockeloen, Charlotte W Willemsen, Marjolein H de Munnik, Sonja van Bon, Bregje W M de Leeuw, Nicole Verrips, Aad Kant, Sarina G Jones, Elizabeth A Brunner, Han G van Loon, Rosa L E Smeets, Eric E J van Haelst, Mieke M van Haaften, Gijs Nordgren, Ann Malmgren, Helena Grigelioniene, Giedre Vermeer, Sascha Louro, Pedro Ramos, Lina Maal, Thomas J J van Heumen, Celeste C Yntema, Helger G Carels, Carine E L Kleefstra, Tjitske Producer: 20160524 In: European journal of human genetics : EJHG vol. 23 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	17.	A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP. [electronic resource] by Helsmoortel, Céline Vulto-van Silfhout, Anneke T Coe, Bradley P Vandeweyer, Geert Rooms, Liesbeth van den Ende, Jenneke Schuurs-Hoeijmakers, Janneke H M Marcelis, Carlo L Willemsen, Marjolein H Vissers, Lisenka E L M Yntema, Helger G Bakshi, Madhura Wilson, Meredith Witherspoon, Kali T Malmgren, Helena Nordgren, Ann Annerén, Göran Fichera, Marco Bosco, Paolo Romano, Corrado de Vries, Bert B A Kleefstra, Tjitske Kooy, R Frank Eichler, Evan E Van der Aa, Nathalie Producer: 20140519 In: Nature genetics vol. 46 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	18.	Further delineation of the KBG syndrome caused by ANKRD11 aberrations. [electronic resource] by Ockeloen, Charlotte W Willemsen, Marjolein H de Munnik, Sonja van Bon, Bregje W M de Leeuw, Nicole Verrips, Aad Kant, Sarina G Jones, Elizabeth A Brunner, Han G van Loon, Rosa L E Smeets, Eric E J van Haelst, Mieke M van Haaften, Gijs Nordgren, Ann Malmgren, Helena Grigelioniene, Giedre Vermeer, Sascha Louro, Pedro Ramos, Lina Maal, Thomas J J van Heumen, Celeste C Yntema, Helger G Carels, Carine E L Kleefstra, Tjitske Producer: 20151022 In: European journal of human genetics : EJHG vol. 23 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	19.	De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations. [electronic resource] by Reijnders, Margot R F Zachariadis, Vasilios Latour, Brooke Jolly, Lachlan Mancini, Grazia M Pfundt, Rolph Wu, Ka Man van Ravenswaaij-Arts, Conny M A Veenstra-Knol, Hermine E Anderlid, Britt-Marie M Wood, Stephen A Cheung, Sau Wai Barnicoat, Angela Probst, Frank Magoulas, Pilar Brooks, Alice S Malmgren, Helena Harila-Saari, Arja Marcelis, Carlo M Vreeburg, Maaike Hobson, Emma Sutton, V Reid Stark, Zornitza Vogt, Julie Cooper, Nicola Lim, Jiin Ying Price, Sue Lai, Angeline Hwei Meeng Domingo, Deepti Reversade, Bruno Gecz, Jozef Gilissen, Christian Brunner, Han G Kini, Usha Roepman, Ronald Nordgren, Ann Kleefstra, Tjitske Producer: 20160622 In: American journal of human genetics vol. 98 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)