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Identification of a previously unrecognized microdeletion syndrome of 16q11.2q12.2.
Published in:
Clinical Genetics, 2008, v. 74, n. 5, p. 469, doi. 10.1111/j.1399-0004.2008.01094.x
By:
- Ballif, B. C.;
- Theisen, A.;
- McDonald-McGinn, D. M.;
- Zackai, E. H.;
- Hersh, J. H.;
- Bejjani, B. A.;
- Shaffer, L. G.
Publication type:
Article
Neurocognitive development in 22q11.2 deletion syndrome: comparison with youth having developmental delay and medical comorbidities.
Published in:
Molecular Psychiatry, 2014, v. 19, n. 11, p. 1205, doi. 10.1038/mp.2013.189
By:
- Gur, R E;
- Yi, J J;
- McDonald-McGinn, D M;
- Tang, S X;
- Calkins, M E;
- Whinna, D;
- Souders, M C;
- Savitt, A;
- Zackai, E H;
- Moberg, P J;
- Emanuel, B S;
- Gur, R C
Publication type:
Article
Clinical experience with single-nucleotide polymorphism-based non-invasive prenatal screening for 22q11.2 deletion syndrome.
Published in:
2016
By:
- Gross, S. J.;
- Stosic, M.;
- McDonald‐McGinn, D. M.;
- Bassett, A. S.;
- Norvez, A.;
- Dhamankar, R.;
- Kobara, K.;
- Kirkizlar, E.;
- Zimmermann, B.;
- Wayham, N.;
- Babiarz, J. E.;
- Ryan, A.;
- Jinnett, K. N.;
- Demko, Z.;
- Benn, P.
Publication type:
journal article
Segmental spinal muscular atrophy and dermatological findings in a patient with chromosome 18q deletion.
Published in:
Annals of Neurology, 1991, v. 30, n. 3, p. 419, doi. 10.1002/ana.410300316
By:
- Weiss, B. J.;
- Kamholz, J.;
- Ritter, A.;
- Zackai, E. H.;
- McDonald-McGinn, D. M.;
- Emanuel, B.;
- Fischbeck, K. H.
Publication type:
Article
Remote assessment of the Penn computerised neurocognitive battery in individuals with 22q11.2 deletion syndrome.
Published in:
Journal of Intellectual Disability Research, 2024, v. 68, n. 4, p. 369, doi. 10.1111/jir.13115
By:
- White, L. K.;
- Hillman, N.;
- Ruparel, K.;
- Moore, T. M.;
- Gallagher, R. S.;
- McClellan, E. J.;
- Roalf, D. R.;
- Scott, J. C.;
- Calkins, M. E.;
- McGinn, D. E.;
- Giunta, V.;
- Tran, O.;
- Crowley, T. B.;
- Zackai, E. H.;
- Emanuel, B. S.;
- McDonald‐McGinn, D. M.;
- Gur, R. E.;
- Gur, R. C.
Publication type:
Article
An online survey to understand the needs of caregivers of family members with 22q11 deletion syndrome.
Published in:
Journal of Intellectual Disability Research, 2023, v. 67, n. 9, p. 860, doi. 10.1111/jir.13061
By:
- Cosman, T.;
- Finless, A.;
- Rideout, A. L.;
- Lingley‐Pottie, P.;
- Palmer, L. D.;
- Shugar, A.;
- McDonald‐McGinn, D. M.;
- Swillen, A.;
- McGrath, P. J.;
- Bassett, A. S.;
- Cytrynbaum, C.;
- Orr, M.;
- Meier, S.
Publication type:
Article
The COVID‐19 pandemic's impact on worry and medical disruptions reported by individuals with chromosome 22q11.2 copy number variants and their caregivers.
Published in:
Journal of Intellectual Disability Research, 2022, v. 66, n. 4, p. 313, doi. 10.1111/jir.12918
By:
- White, L. K.;
- Crowley, T. B.;
- Finucane, B.;
- Garcia‐Minaur, S.;
- Repetto, G. M.;
- van den Bree, M.;
- Fischer, M.;
- Jacquemont, S.;
- Barzilay, R.;
- Maillard, A. M.;
- Donald, K. A.;
- Gur, R. E.;
- Bassett, A. S.;
- Swillen, A.;
- McDonald‐McGinn, D. M.
Publication type:
Article

Found: 7

Identification of a previously unrecognized microdeletion syndrome of 16q11.2q12.2.

Neurocognitive development in 22q11.2 deletion syndrome: comparison with youth having developmental delay and medical comorbidities.

Clinical experience with single-nucleotide polymorphism-based non-invasive prenatal screening for 22q11.2 deletion syndrome.

Segmental spinal muscular atrophy and dermatological findings in a patient with chromosome 18q deletion.

Remote assessment of the Penn computerised neurocognitive battery in individuals with 22q11.2 deletion syndrome.

An online survey to understand the needs of caregivers of family members with 22q11 deletion syndrome.

The COVID‐19 pandemic's impact on worry and medical disruptions reported by individuals with chromosome 22q11.2 copy number variants and their caregivers.