Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

270 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Whole-Exome Sequencing in Critically Ill Neonates and Infants: Diagnostic Yield and Predictability of Monogenic Diagnosis.
Scholz T, Blohm ME, Kortüm F, Bierhals T, Lessel D, van der Ven AT, Lisfeld J, Herget T, Kloth K, Singer D, Perez A, Obi N, Johannsen J, Denecke J, Santer R, Kubisch C, Deindl P, Hempel M. Scholz T, et al. Among authors: kubisch c. Neonatology. 2021;118(4):454-461. doi: 10.1159/000516890. Epub 2021 Jul 8. Neonatology. 2021. PMID: 34237744
Atypical Aicardi-Goutieres syndrome: is the WRN locus a modifier?
Lessel D, Saha B, Hisama F, Kaymakamzade B, Nurlu G, Gursoy-Özdemir Y, Thiele H, Nürnberg P, Martin GM, Kubisch C, Oshima J. Lessel D, et al. Among authors: kubisch c. Am J Med Genet A. 2014 Oct;164A(10):2510-3. doi: 10.1002/ajmg.a.36664. Epub 2014 Jul 2. Am J Med Genet A. 2014. PMID: 24989684 Free PMC article.
POLD1 Germline Mutations in Patients Initially Diagnosed with Werner Syndrome.
Lessel D, Hisama FM, Szakszon K, Saha B, Sanjuanelo AB, Salbert BA, Steele PD, Baldwin J, Brown WT, Piussan C, Plauchu H, Szilvássy J, Horkay E, Högel J, Martin GM, Herr AJ, Oshima J, Kubisch C. Lessel D, et al. Among authors: kubisch c. Hum Mutat. 2015 Nov;36(11):1070-9. doi: 10.1002/humu.22833. Epub 2015 Aug 6. Hum Mutat. 2015. PMID: 26172944 Free PMC article.
De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment.
Hempel M, Cremer K, Ockeloen CW, Lichtenbelt KD, Herkert JC, Denecke J, Haack TB, Zink AM, Becker J, Wohlleber E, Johannsen J, Alhaddad B, Pfundt R, Fuchs S, Wieczorek D, Strom TM, van Gassen KL, Kleefstra T, Kubisch C, Engels H, Lessel D. Hempel M, et al. Among authors: kubisch c. Am J Hum Genet. 2015 Sep 3;97(3):493-500. doi: 10.1016/j.ajhg.2015.08.003. Am J Hum Genet. 2015. PMID: 26340335 Free PMC article.
The analysis of heterotaxy patients reveals new loss-of-function variants of GRK5.
Lessel D, Muhammad T, Casar Tena T, Moepps B, Burkhalter MD, Hitz MP, Toka O, Rentzsch A, Schubert S, Schalinski A, Bauer UM, Kubisch C, Ware SM, Philipp M. Lessel D, et al. Among authors: kubisch c. Sci Rep. 2016 Sep 13;6:33231. doi: 10.1038/srep33231. Sci Rep. 2016. PMID: 27618959 Free PMC article.
270 results