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9941.
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9942.
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9943.
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9944.
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9945.
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9946.
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9947.
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9948.
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9949.
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Induced pluripotent stem cells from CINCA syndrome patients as a model for dissecting somatic mosaicism and drug discovery. [electronic resource] by
- Tanaka, Takayuki
- Takahashi, Kazutoshi
- Yamane, Mayu
- Tomida, Shota
- Nakamura, Saori
- Oshima, Koichi
- Niwa, Akira
- Nishikomori, Ryuta
- Kambe, Naotomo
- Hara, Hideki
- Mitsuyama, Masao
- Morone, Nobuhiro
- Heuser, John E
- Yamamoto, Takuya
- Watanabe, Akira
- Sato-Otsubo, Aiko
- Ogawa, Seishi
- Asaka, Isao
- Heike, Toshio
- Yamanaka, Shinya
- Nakahata, Tatsutoshi
- Saito, Megumu K
Producer: 20121025
In:
Blood vol. 120
Availability: No items available.
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9950.
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Homozygous BUB1B mutation and susceptibility to gastrointestinal neoplasia. [electronic resource] by
- Rio Frio, Thomas
- Lavoie, Josée
- Hamel, Nancy
- Geyer, Felipe C
- Kushner, Yaël B
- Novak, David J
- Wark, Landon
- Capelli, Cristian
- Reis-Filho, Jorge S
- Mai, Sabine
- Pastinen, Tomi
- Tischkowitz, Marc D
- Marcus, Victoria A
- Foulkes, William D
Producer: 20110111
In:
The New England journal of medicine vol. 363
Availability: No items available.
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9951.
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Positive cell-free fetal DNA testing for trisomy 13 reveals confined placental mosaicism. [electronic resource] by
- Hall, April L
- Drendel, Holli M
- Verbrugge, Jennifer L
- Reese, Angela M
- Schumacher, Katherine L
- Griffith, Christopher B
- Weaver, David D
- Abernathy, Mary P
- Litton, Christian G
- Vance, Gail H
Producer: 20140310
In:
Genetics in medicine : official journal of the American College of Medical Genetics vol. 15
Availability: No items available.
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9952.
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9953.
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Mitotic recombination in patients with ichthyosis causes reversion of dominant mutations in KRT10. [electronic resource] by
- Choate, Keith A
- Lu, Yin
- Zhou, Jing
- Choi, Murim
- Elias, Peter M
- Farhi, Anita
- Nelson-Williams, Carol
- Crumrine, Debra
- Williams, Mary L
- Nopper, Amy J
- Bree, Alanna
- Milstone, Leonard M
- Lifton, Richard P
Producer: 20101020
In:
Science (New York, N.Y.) vol. 330
Availability: No items available.
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9954.
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9955.
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9956.
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9957.
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9958.
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Congenital cataracts in females caused by BCOR mutations; report of six further families demonstrating clinical variability and diverse genetic mechanisms. [electronic resource] by
- Redwood, A
- Douzgou, S
- Waller, S
- Ramsden, S
- Roberts, A
- Bonin, H
- Lloyd, I C
- Ashworth, J
- Black, G C M
- Clayton-Smith, J
Producer: 20201019
In:
European journal of medical genetics vol. 63
Availability: No items available.
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9959.
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Clinical but Not Histological Outcomes in Males With 45,X/46,XY Mosaicism Vary Depending on Reason for Diagnosis. [electronic resource] by
- Ljubicic, Marie Lindhardt
- Jørgensen, Anne
- Acerini, Carlo
- Andrade, Juliana
- Balsamo, Antonio
- Bertelloni, Silvano
- Cools, Martine
- Cuccaro, Rieko Tadokoro
- Darendeliler, Feyza
- Flück, Christa E
- Grinspon, Romina P
- Maciel-Guerra, Andrea
- Guran, Tulay
- Hannema, Sabine E
- Lucas-Herald, Angela K
- Hiort, Olaf
- Holterhus, Paul Martin
- Lichiardopol, Corina
- Looijenga, Leendert H J
- Ortolano, Rita
- Riedl, Stefan
- Ahmed, S Faisal
- Juul, Anders
Producer: 20200529
In:
The Journal of clinical endocrinology and metabolism vol. 104
Availability: No items available.
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9960.
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Reduced Androgen Receptor Expression in Genital Skin Fibroblasts From Patients With 45,X/46,XY Mosaicism. [electronic resource] by
- Hornig, Nadine C
- Demiri, Jeta
- Rodens, Pascal
- Murga Penas, Eva Maria
- Caliebe, Almuth
- Eckstein, Anne Katrin
- Schweikert, Hans-Udo
- Audi, Laura
- Hiort, Olaf
- Werner, Ralf
- Kulle, Alexandra E
- Ammerpohl, Ole
- Holterhus, Paul-Martin
Producer: 20200608
In:
The Journal of clinical endocrinology and metabolism vol. 104
Availability: No items available.
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