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Dietary thyroid hormone replacement ameliorates hearing deficits in hypothyroid mice. [electronic resource] by
- Karolyi, I Jill
- Dootz, Gary A
- Halsey, Karin
- Beyer, Lisa
- Probst, Frank J
- Johnson, Kenneth R
- Parlow, Albert F
- Raphael, Yehoash
- Dolan, David F
- Camper, Sally A
Producer: 20071213
In:
Mammalian genome : official journal of the International Mammalian Genome Society vol. 18
Availability: No items available.
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11.
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A point mutation in the gene for asparagine-linked glycosylation 10B (Alg10b) causes nonsyndromic hearing impairment in mice (Mus musculus). [electronic resource] by
- Probst, Frank J
- Corrigan, Rebecca R
- Del Gaudio, Daniela
- Salinger, Andrew P
- Lorenzo, Isabel
- Gao, Simon S
- Chiu, Ilene
- Xia, Anping
- Oghalai, John S
- Justice, Monica J
Producer: 20141001
In:
PloS one vol. 8
Availability: No items available.
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12.
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Small genomic rearrangements involving FMR1 support the importance of its gene dosage for normal neurocognitive function. [electronic resource] by
- Nagamani, Sandesh C S
- Erez, Ayelet
- Probst, Frank J
- Bader, Patricia
- Evans, Patricia
- Baker, Linda A
- Fang, Ping
- Bertin, Terry
- Hixson, Patricia
- Stankiewicz, Pawel
- Nelson, David
- Patel, Ankita
- Cheung, Sau Wai
Producer: 20130410
In:
Neurogenetics vol. 13
Availability: No items available.
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13.
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Myo15 function is distinct from Myo6, Myo7a and pirouette genes in development of cochlear stereocilia. [electronic resource] by
- Karolyi, I Jill
- Probst, Frank J
- Beyer, Lisa
- Odeh, Hana
- Dootz, Gary
- Cha, Kelly B
- Martin, Donna M
- Avraham, Karen B
- Kohrman, David
- Dolan, David F
- Raphael, Yehoash
- Camper, Sally A
Producer: 20040622
In:
Human molecular genetics vol. 12
Availability: No items available.
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14.
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Co-occurrence of recurrent duplications of the DiGeorge syndrome region on both chromosome 22 homologues due to inherited and de novo events. [electronic resource] by
- Bi, Weimin
- Probst, Frank J
- Wiszniewska, Joanna
- Plunkett, Katie
- Roney, Erin K
- Carter, Brian S
- Williams, Misti D
- Stankiewicz, Pawel
- Patel, Ankita
- Stevens, Cathy A
- Lupski, James R
- Cheung, Sau Wai
Producer: 20130503
In:
Journal of medical genetics vol. 49
Availability: No items available.
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15.
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Strain background influences neurotoxicity and behavioral abnormalities in mice expressing the tetracycline transactivator. [electronic resource] by
- Han, Harry J
- Allen, Carolyn C
- Buchovecky, Christie M
- Yetman, Michael J
- Born, Heather A
- Marin, Miguel A
- Rodgers, Shaefali P
- Song, Bryan J
- Lu, Hui-Chen
- Justice, Monica J
- Probst, Frank J
- Jankowsky, Joanna L
Producer: 20121015
In:
The Journal of neuroscience : the official journal of the Society for Neuroscience vol. 32
Availability: No items available.
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16.
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Chromosomal microarray analysis (CMA) detects a large X chromosome deletion including FMR1, FMR2, and IDS in a female patient with mental retardation. [electronic resource] by
- Probst, Frank J
- Roeder, Elizabeth R
- Enciso, Victoria B
- Ou, Zhishuo
- Cooper, M Lance
- Eng, Patricia
- Li, Jiangzhen
- Gu, Yanghong
- Stratton, Robert F
- Chinault, A Craig
- Shaw, Chad A
- Sutton, V Reid
- Cheung, Sau Wai
- Nelson, David L
Producer: 20080124
In:
American journal of medical genetics. Part A vol. 143A
Availability: No items available.
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17.
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Expanding the genotype-phenotype correlation in subtelomeric 19p13.3 microdeletions using high resolution clinical chromosomal microarray analysis. [electronic resource] by
- Peddibhotla, Sirisha
- Khalifa, Mohamed
- Probst, Frank J
- Stein, Jennifer
- Harris, Leslie L
- Kearney, Debra L
- Vance, Gail H
- Bull, Marilyn J
- Grange, Dorothy K
- Scharer, Gunter H
- Kang, Sue-Hae L
- Stankiewicz, Pawel
- Bacino, Carlos A
- Cheung, Sau W
- Patel, Ankita
Producer: 20140702
In:
American journal of medical genetics. Part A vol. 161A
Availability: No items available.
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18.
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Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological? [electronic resource] by
- Szafranski, Przemyslaw
- Schaaf, Christian P
- Person, Richard E
- Gibson, Ian B
- Xia, Zhilian
- Mahadevan, Sangeetha
- Wiszniewska, Joanna
- Bacino, Carlos A
- Lalani, Seema
- Potocki, Lorraine
- Kang, Sung-Hae
- Patel, Ankita
- Cheung, Sau Wai
- Probst, Frank J
- Graham, Brett H
- Shinawi, Marwan
- Beaudet, Arthur L
- Stankiewicz, Pawel
Producer: 20101004
In:
Human mutation vol. 31
Availability: No items available.
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19.
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Molecular and clinical analyses of 16q24.1 duplications involving FOXF1 identify an evolutionarily unstable large minisatellite. [electronic resource] by
- Dharmadhikari, Avinash V
- Gambin, Tomasz
- Szafranski, Przemyslaw
- Cao, Wenjian
- Probst, Frank J
- Jin, Weihong
- Fang, Ping
- Gogolewski, Krzysztof
- Gambin, Anna
- George-Abraham, Jaya K
- Golla, Sailaja
- Boidein, Francoise
- Duban-Bedu, Benedicte
- Delobel, Bruno
- Andrieux, Joris
- Becker, Kerstin
- Holinski-Feder, Elke
- Cheung, Sau Wai
- Stankiewicz, Pawel
Producer: 20150702
In:
BMC medical genetics vol. 15
Availability: No items available.
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20.
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Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing. [electronic resource] by
- Wiszniewska, Joanna
- Bi, Weimin
- Shaw, Chad
- Stankiewicz, Pawel
- Kang, Sung-Hae L
- Pursley, Amber N
- Lalani, Seema
- Hixson, Patricia
- Gambin, Tomasz
- Tsai, Chun-hui
- Bock, Hans-Georg
- Descartes, Maria
- Probst, Frank J
- Scaglia, Fernando
- Beaudet, Arthur L
- Lupski, James R
- Eng, Christine
- Cheung, Sau Wai
- Bacino, Carlos
- Patel, Ankita
Producer: 20150212
In:
European journal of human genetics : EJHG vol. 22
Availability: No items available.
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