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Author/Creator Schindewolf, Erica

2. Expanding the fetal phenotype: Prenatal sonographic findings and perinatal outcomes in a cohort of patients with a confirmed 22q11.2 deletion syndrome. Issue 8 (28th July 2018)

Authors:
Schindewolf, Erica; Khalek, Nahla; Johnson, Mark P.; Gebb, Juliana; Coleman, Beverly; Crowley, Terrence Blaine; Zackai, Elaine H.; McDonald‐McGinn, Donna M.; Moldenhauer, Julie S.
Journal:
American journal of medical genetics
Issue:
Volume 176:Issue 8(2018)
Page Start:
1735
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

3. Further delineation of the phenotypic spectrum of nevus comedonicus syndrome to include congenital pulmonary airway malformation of the lung and aneurysm. Issue 4 (21st January 2020)

Authors:
Sheppard, Sarah E.; Smith, Anna; Grand, Katheryn; Pogoriler, Jennifer; Rubin, Adam I.; Schindewolf, Erica; Fitzgerald, Mark P.; Moldenhauer, Julie; Laje, Pablo; Peranteau, William; Bhoj, Elizabeth; McMahon, Patrick; Castelo‐Soccio, Leslie
Journal:
American journal of medical genetics
Issue:
Volume 182:Issue 4(2020)
Page Start:
746
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

5. Genomic sequencing in a cohort of individuals with fibular aplasia, tibial campomelia, and oligosyndactyly (FATCO) syndrome. Issue 4 (6th January 2023)

Authors:
Matalon, Dena R.; Bhoj, Elizabeth J.; Li, Dong; McDougall, Carey; Schindewolf, Erica; Khalek, Nahla; Wilkens, Alisha; McManus, Morgan; Deardorff, Matthew A.; Zackai, Elaine H.
Journal:
American journal of medical genetics
Issue:
Volume 191:Issue 4(2023)
Page Start:
977
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

7. Loss‐of‐function of Endothelin receptor type A results in Oro‐Oto‐Cardiac syndrome. Issue 5 (5th March 2020)

Authors:
Pritchard, Amanda Barone; Kanai, Stanley M.; Krock, Bryan; Schindewolf, Erica; Oliver‐Krasinski, Jennifer; Khalek, Nahla; Okashah, Najeah; Lambert, Nevin A.; Tavares, Andre L.P.; Zackai, Elaine; Clouthier, David E.
Journal:
American journal of medical genetics
Issue:
Volume 182:Issue 5(2020)
Page Start:
1104
Record Type:
Journal Article
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8. Molecular diagnosis of somatic overgrowth conditions: A single‐center experience. Issue 3 (13th February 2019)

Authors:
Lalonde, Emilie; Ebrahimzadeh, Jessica; Rafferty, Keith; Richards‐Yutz, Jennifer; Grant, Richard; Toorens, Erik; Marie Rosado, Jennifer; Schindewolf, Erica; Ganguly, Tapan; Kalish, Jennifer M.; Deardorff, Matthew A.; Ganguly, Arupa
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 7:Issue 3(2019)
Page Start:
n/a
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗