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Next-generation mapping: a novel approach for detection of pathogenic structural variants with a potential utility in clinical diagnosis. [electronic resource] by
- Barseghyan, Hayk
- Tang, Wilson
- Wang, Richard T
- Almalvez, Miguel
- Segura, Eva
- Bramble, Matthew S
- Lipson, Allen
- Douine, Emilie D
- Lee, Hane
- Délot, Emmanuèle C
- Nelson, Stanley F
- Vilain, Eric
Producer: 20180618
In:
Genome medicine vol. 9
Availability: No items available.
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13.
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Psychosocial Screening in Disorders/Differences of Sex Development: Psychometric Evaluation of the Psychosocial Assessment Tool. [electronic resource] by
- Ernst, Michelle M
- Gardner, Melissa
- Mara, Constance A
- Délot, Emmanuèle C
- Fechner, Patricia Y
- Fox, Michelle
- Rutter, Meilan M
- Speiser, Phyllis W
- Vilain, Eric
- Weidler, Erica M
- Sandberg, David E
Producer: 20190801
In:
Hormone research in paediatrics vol. 90
Availability: No items available.
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14.
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Identification of novel candidate genes for 46,XY disorders of sex development (DSD) using a C57BL/6J-Y [electronic resource] by
- Barseghyan, Hayk
- Symon, Aleisha
- Zadikyan, Mariam
- Almalvez, Miguel
- Segura, Eva E
- Eskin, Ascia
- Bramble, Matthew S
- Arboleda, Valerie A
- Baxter, Ruth
- Nelson, Stanley F
- Délot, Emmanuèle C
- Harley, Vincent
- Vilain, Eric
Producer: 20190322
In:
Biology of sex differences vol. 9
Availability: No items available.
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15.
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Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome. [electronic resource] by
- Arboleda, Valerie A
- Lee, Hane
- Parnaik, Rahul
- Fleming, Alice
- Banerjee, Abhik
- Ferraz-de-Souza, Bruno
- Délot, Emmanuèle C
- Rodriguez-Fernandez, Imilce A
- Braslavsky, Debora
- Bergadá, Ignacio
- Dell'Angelica, Esteban C
- Nelson, Stanley F
- Martinez-Agosto, Julian A
- Achermann, John C
- Vilain, Eric
Producer: 20121105
In:
Nature genetics vol. 44
Availability: No items available.
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16.
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Exome sequencing for the diagnosis of 46,XY disorders of sex development. [electronic resource] by
- Baxter, Ruth M
- Arboleda, Valerie A
- Lee, Hane
- Barseghyan, Hayk
- Adam, Margaret P
- Fechner, Patricia Y
- Bargman, Renee
- Keegan, Catherine
- Travers, Sharon
- Schelley, Susan
- Hudgins, Louanne
- Mathew, Revi P
- Stalker, Heather J
- Zori, Roberto
- Gordon, Ora K
- Ramos-Platt, Leigh
- Pawlikowska-Haddal, Anna
- Eskin, Ascia
- Nelson, Stanley F
- Délot, Emmanuèle
- Vilain, Eric
Producer: 20150414
In:
The Journal of clinical endocrinology and metabolism vol. 100
Availability: No items available.
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17.
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Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations. [electronic resource] by
- Hughes, Joel J
- Alkhunaizi, Ebba
- Kruszka, Paul
- Pyle, Louise C
- Grange, Dorothy K
- Berger, Seth I
- Payne, Katelyn K
- Masser-Frye, Diane
- Hu, Tommy
- Christie, Michelle R
- Clegg, Nancy J
- Everson, Joshua L
- Martinez, Ariel F
- Walsh, Laurence E
- Bedoukian, Emma
- Jones, Marilyn C
- Harris, Catharine Jean
- Riedhammer, Korbinian M
- Choukair, Daniela
- Fechner, Patricia Y
- Rutter, Meilan M
- Hufnagel, Sophia B
- Roifman, Maian
- Kletter, Gad B
- Delot, Emmanuele
- Vilain, Eric
- Lipinski, Robert J
- Vezina, Chad M
- Muenke, Maximilian
- Chitayat, David
Producer: 20200417
In:
American journal of human genetics vol. 106
Availability: No items available.
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