Search

Author/Creator Steinraths, Michelle

1. Cover Image, Volume 176A, Number 4, April 2018. Issue 4 (25th March 2018)

Authors:
Zarate, Yuri A.; Smith‐Hicks, Constance L.; Greene, Carol; Abbott, Mary‐Alice; Siu, Victoria M.; Calhoun, Amy R. U. L.; Pandya, Arti; Li, Chumei; Sellars, Elizabeth A.; Kaylor, Julie; Bosanko, Katherine; Kalsner, Louisa; Basinger, Alice; Slavotinek, Anne M.; Perry, Hazel; Saenz, Margarita; Szybow...
Journal:
American journal of medical genetics
Issue:
Volume 176:Issue 4(2018)
Page Start:
n/a
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

2. De novo heterozygous missense and loss‐of‐function variants in CDC42BPB are associated with a neurodevelopmental phenotype. Issue 5 (7th February 2020)

Authors:
Chilton, Ilana; Okur, Volkan; Vitiello, Giuseppina; Selicorni, Angelo; Mariani, Milena; Goldenberg, Alice; Husson, Thomas; Campion, Dominique; Lichtenbelt, Klaske D.; van Gassen, Koen; Steinraths, Michelle; Rice, Jennifer; Roeder, Elizabeth R.; Littlejohn, Rebecca O.; Srour, Myriam; Sebire, Guill...
Journal:
American journal of medical genetics
Issue:
Volume 182:Issue 5(2020)
Page Start:
962
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. Incidental finding of paternal UPD15 in a child with a deletion of 11q21–q22.3, presenting with developmental delay, coloboma and characteristic dysmorphic features. Issue 2 (April 2016)

Authors:
Tucker, Tracy; Steinraths, Michelle; Oh, Tracey; Nelson, Tanya N.; Van Allen, Margot I.; Brown, Lindsay; Schlade-Bartusiak, Kamilla
Journal:
Clinical dysmorphology
Issue:
Volume 25:Issue 2(2016:Apr.)
Page Start:
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

4. Natural history and genotype‐phenotype correlations in 72 individuals with SATB2‐associated syndrome. Issue 4 (13th February 2018)

Authors:
Zarate, Yuri A.; Smith‐Hicks, Constance L.; Greene, Carol; Abbott, Mary‐Alice; Siu, Victoria M.; Calhoun, Amy R. U. L.; Pandya, Arti; Li, Chumei; Sellars, Elizabeth A.; Kaylor, Julie; Bosanko, Katherine; Kalsner, Louisa; Basinger, Alice; Slavotinek, Anne M.; Perry, Hazel; Saenz, Margarita; Szybow...
Journal:
American journal of medical genetics
Issue:
Volume 176:Issue 4(2018)
Page Start:
925
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

5. Novel FH mutations in families with hereditary leiomyomatosis and renal cell cancer (HLRCC) and patients with isolated type 2 papillary renal cell carcinoma. Issue 4 (12th March 2011)

Authors:
Gardie, Betty; Remenieras, Audrey; Kattygnarath, Darouna; Bombled, Johny; Lefèvre, Sandrine; Perrier-Trudova, Victoria; Rustin, Pierre; Barrois, Michel; Slama, Abdelhamid; Avril, Marie-Françoise; Bessis, Didier; Caron, Olivier; Caux, Frédéric; Collignon, Patrick; Coupier, Isabelle; Cremin, Carol;...
Journal:
Journal of medical genetics
Issue:
Volume 48:Issue 4(2011)
Page Start:
226
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

6. Recurrent sterile abscesses in a case of X‐linked neutropenia. Issue 4 (23rd March 2020)

Authors:
Biggs, Catherine M.; Modi, Bhavi; Steinraths, Michelle; Del Bel, Kate; Pourshahnazari, Persia; Griffiths, Cameron; Forrest, David M.; Prendiville, Julie; Dutz, Jan P.; Turvey, Stuart E.; Cameron, Scott B.
Journal:
Pediatric dermatology
Issue:
Volume 37:Issue 4(2020)
Page Start:
742
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗