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Additional chromosomal abnormalities in patients with a previously detected abnormal karyotype, mental retardation, and dysmorphic features. [electronic resource] by
- Bisgaard, Anne-Marie
- Kirchhoff, Maria
- Tümer, Zeynep
- Jepsen, Birgit
- Brøndum-Nielsen, Karen
- Cohen, Monika
- Hamborg-Petersen, Bente
- Bryndorf, Thue
- Tommerup, Niels
- Skovby, Flemming
Producer: 20061213
In:
American journal of medical genetics. Part A vol. 140
Availability: No items available.
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32.
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A newly recognized 13q12.3 microdeletion syndrome characterized by intellectual disability, microcephaly, and eczema/atopic dermatitis encompassing the HMGB1 and KATNAL1 genes. [electronic resource] by
- Bartholdi, Deborah
- Stray-Pedersen, Asbjørg
- Azzarello-Burri, Silvia
- Kibaek, Maria
- Kirchhoff, Maria
- Oneda, Beatrice
- Rødningen, Olaug
- Schmitt-Mechelke, Thomas
- Rauch, Anita
- Kjaergaard, Susanne
Producer: 20150819
In:
American journal of medical genetics. Part A vol. 164A
Availability: No items available.
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33.
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Heart defects and other features of the 22q11 distal deletion syndrome. [electronic resource] by
- Fagerberg, Christina R
- Graakjaer, Jesper
- Heinl, Ulrike D
- Ousager, Lilian B
- Dreyer, Inken
- Kirchhoff, Maria
- Rasmussen, Anders A
- Lautrup, Charlotte K
- Birkebaek, Niels
- Sorensen, Keld
Producer: 20130715
In:
European journal of medical genetics vol. 56
Availability: No items available.
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34.
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Flow cytometric DNA index, G-band karyotyping, and comparative genomic hybridization in detection of high hyperdiploidy in childhood acute lymphoblastic leukemia. [electronic resource] by
- Nygaard, Ulrikka
- Larsen, Jacob
- Kristensen, Tim D
- Wesenberg, Finn
- Jonsson, Olafur G
- Carlsen, Niels T
- Forestier, Erik
- Kirchhoff, Maria
- Larsen, Jørgen K
- Schmiegelow, Kjeld
- Christensen, Ib J
Producer: 20060602
In:
Journal of pediatric hematology/oncology vol. 28
Availability: No items available.
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35.
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36.
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Segmental haplosufficiency: transmitted deletions of 2p12 include a pancreatic regeneration gene cluster and have no apparent phenotypic consequences. [electronic resource] by
- Barber, John C K
- Thomas, N Simon
- Collinson, Morag N
- Dennis, Nick R
- Liehr, Thomas
- Weise, Anja
- Belitz, Britta
- Pfeiffer, Lutz
- Kirchhoff, Maria
- Krag-Olsen, Bente
- Lundsteen, Claes
Producer: 20050712
In:
European journal of human genetics : EJHG vol. 13
Availability: No items available.
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37.
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Delineation of a new chromosome 20q11.2 duplication syndrome including the ASXL1 gene. [electronic resource] by
- Avila, Magali
- Kirchhoff, Maria
- Marle, Nathalie
- Hove, Hanna D
- Chouchane, Mondher
- Thauvin-Robinet, Christel
- Masurel, Alice
- Mosca-Boidron, Anne-Laure
- Callier, Patrick
- Mugneret, Francine
- Kjaergaard, Susanne
- Faivre, Laurence
Producer: 20140214
In:
American journal of medical genetics. Part A vol. 161A
Availability: No items available.
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38.
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Chromosome aberrations involving 10q22: report of three overlapping interstitial deletions and a balanced translocation disrupting C10orf11. [electronic resource] by
- Tzschach, Andreas
- Bisgaard, Anne-Marie
- Kirchhoff, Maria
- Graul-Neumann, Luitgard M
- Neitzel, Heidemarie
- Page, Stephanie
- Ahmed, Alischo
- Müller, Ines
- Erdogan, Fikret
- Ropers, Hans-Hilger
- Kalscheuer, Vera M
- Ullmann, Reinhard
Producer: 20100518
In:
European journal of human genetics : EJHG vol. 18
Availability: No items available.
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39.
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Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3. [electronic resource] by
- Hurst, Jane A
- Jenkins, Dagan
- Vasudevan, Pradeep C
- Kirchhoff, Maria
- Skovby, Flemming
- Rieubland, Claudine
- Gallati, Sabina
- Rittinger, Olaf
- Kroisel, Peter M
- Johnson, David
- Biesecker, Leslie G
- Wilkie, Andrew O M
Producer: 20111005
In:
European journal of human genetics : EJHG vol. 19
Availability: No items available.
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40.
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Phenotype and 244k array-CGH characterization of chromosome 13q deletions: an update of the phenotypic map of 13q21.1-qter. [electronic resource] by
- Kirchhoff, Maria
- Bisgaard, Anne-Marie
- Stoeva, Radka
- Dimitrov, Boyan
- Gillessen-Kaesbach, Gabriele
- Fryns, Jean-Pierre
- Rose, Hanne
- Grozdanova, Liliana
- Ivanov, Ivan
- Keymolen, Kathelijn
- Fagerberg, Christina
- Tranebjaerg, Lisbeth
- Skovby, Flemming
- Stefanova, Margarita
Producer: 20090618
In:
American journal of medical genetics. Part A vol. 149A
Availability: No items available.
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