Results
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7261.
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Thirteen novel mutations in the NR0B1 (DAX1) gene as cause of adrenal hypoplasia congenita. [electronic resource] by
- Krone, Nils
- Riepe, Felix Günther
- Dörr, Helmuth-Günther
- Morlot, Michel
- Rudorff, Karl-Heinz
- Drop, Stenvert L S
- Weigel, Johannes
- Pura, Mikulas
- Kreze, Alexander
- Boronat, Mauro
- de Luca, Filippo
- Tiulpakov, Anatoly
- Partsch, Carl-Joachim
- Peter, Michael
- Sippell, Wolfgang G
Producer: 20060605
In:
Human mutation vol. 25
Availability: No items available.
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7262.
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7263.
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7264.
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7265.
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7266.
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7267.
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7268.
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7269.
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7270.
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Genome-wide comparative analysis of the Brassica rapa gene space reveals genome shrinkage and differential loss of duplicated genes after whole genome triplication. [electronic resource] by
- Mun, Jeong-Hwan
- Kwon, Soo-Jin
- Yang, Tae-Jin
- Seol, Young-Joo
- Jin, Mina
- Kim, Jin-A
- Lim, Myung-Ho
- Kim, Jung Sun
- Baek, Seunghoon
- Choi, Beom-Soon
- Yu, Hee-Ju
- Kim, Dae-Soo
- Kim, Namshin
- Lim, Ki-Byung
- Lee, Soo-In
- Hahn, Jang-Ho
- Lim, Yong Pyo
- Bancroft, Ian
- Park, Beom-Seok
Producer: 20100127
In:
Genome biology vol. 10
Availability: No items available.
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7271.
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7272.
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Multiplex ligation-dependent probe amplification (MLPA) analysis is an effective tool for the detection of novel intragenic PLA2G6 mutations: implications for molecular diagnosis. [electronic resource] by
- Crompton, Danielle
- Rehal, Pauline K
- MacPherson, Lesley
- Foster, Katharine
- Lunt, Peter
- Hughes, Imelda
- Brady, Angela F
- Pike, Michael G
- De Gressi, Susanna
- Morgan, Neil V
- Hardy, Carol
- Smith, Matthew
- MacDonald, Fiona
- Maher, Eamonn R
- Kurian, Manju A
Producer: 20100809
In:
Molecular genetics and metabolism vol. 100
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7273.
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7274.
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7275.
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Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders. [electronic resource] by
- Aradhya, Swaroop
- Lewis, Rachel
- Bonaga, Tahrra
- Nwokekeh, Nnenna
- Stafford, Amanda
- Boggs, Barbara
- Hruska, Kathleen
- Smaoui, Nizar
- Compton, John G
- Richard, Gabriele
- Suchy, Sharon
Producer: 20121005
In:
Genetics in medicine : official journal of the American College of Medical Genetics vol. 14
Availability: No items available.
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7276.
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7277.
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Prognostic impact of allogeneic hematopoietic stem cell transplantation for acute myeloid leukemia patients with internal tandem duplication of FLT3. [electronic resource] by
- Lin, Po-Han
- Lin, Ching-Chan
- Yang, Hwai-I
- Li, Long-Yuan
- Bai, Li-Yuan
- Chiu, Chang-Fang
- Liao, Yu-Min
- Lin, Chen-Yuan
- Hsieh, Ching-Yun
- Lin, Chien-Yu
- Ho, Cheng-Mao
- Yang, Shu-Fen
- Peng, Ching-Tien
- Tsai, Fuu-Jen
- Yeh, Su-Peng
Producer: 20130321
In:
Leukemia research vol. 37
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7278.
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7279.
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The duplication 17p13.3 phenotype: analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes. [electronic resource] by
- Curry, Cynthia J
- Rosenfeld, Jill A
- Grant, Erica
- Gripp, Karen W
- Anderson, Carol
- Aylsworth, Arthur S
- Saad, Taha Ben
- Chizhikov, Victor V
- Dybose, Giedre
- Fagerberg, Christina
- Falco, Michelle
- Fels, Christina
- Fichera, Marco
- Graakjaer, Jesper
- Greco, Donatella
- Hair, Jennifer
- Hopkins, Elizabeth
- Huggins, Marlene
- Ladda, Roger
- Li, Chumei
- Moeschler, John
- Nowaczyk, Malgorzata J M
- Ozmore, Jillian R
- Reitano, Santina
- Romano, Corrado
- Roos, Laura
- Schnur, Rhonda E
- Sell, Susan
- Suwannarat, Pim
- Svaneby, Dea
- Szybowska, Marta
- Tarnopolsky, Mark
- Tervo, Raymond
- Tsai, Anne Chun-Hui
- Tucker, Megan
- Vallee, Stephanie
- Wheeler, Ferrin C
- Zand, Dina J
- Barkovich, A James
- Aradhya, Swaroop
- Shaffer, Lisa G
- Dobyns, William B
Producer: 20131017
In:
American journal of medical genetics. Part A vol. 161A
Availability: No items available.
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7280.
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