检索结果 - Anyane‐Yeboa, Kwame

A Novel Mutation Causing Pseudohypoparathyroidism 1A with Congenital Hypothyroidism and Osteoma Cutis 由 Lubell, Tamar, Garzon, Maria, Anyane−Yeboa, Kwame, Shah, Bina

获取全文 获取全文 获取全文

Homozygosity for Multiple Contiguous Single-Nucleotide Polymorphisms as an Indicator of Large Heterozygous Deletions: Identification of a Novel Heterozygous 8-kb Intragenic Deletio... 由 Huie, Maryann L., Anyane-Yeboa, Kwame, Guzman, Edwin, Hirschhorn, Rochelle

获取全文 获取全文

Networks of Attention in Children With the 22q11 Deletion Syndrome 由 Sobin, Christina, Kiley-Brabeck, Karen, Daniels, Sarah, Blundell, Maude, Anyane-Yeboa, Kwame, Karayiorgou, Maria

获取全文 获取全文 获取全文

Rare inheritance of Leri-Weill Syndrome due to crossover of short stature Homeobox Gene (SHOX) Deletions between X and Y Chromosomes: a case report 由 Censani, Marisa, Anyane-Yeboa, Kwame, Wapner, Ronald, Spiegel, Erica, Guzman, Edwin, Oberfield, Sharon E

获取全文 获取全文 获取全文

3q27.1 microdeletion causes prenatal and postnatal growth restriction and neurodevelopmental abnormalities 由 Barua, Subit, Pereira, Elaine M., Jobanputra, Vaidehi, Anyane-Yeboa, Kwame, Levy, Brynn, Liao, Jun

获取全文 获取全文 获取全文

Congenital hypothyroidism and thyroid dyshormonogenesis: a case report of siblings with a newly identified mutation in thyroperoxidase 由 Sparling, David P., Fabian, Kendra, Harik, Lara, Jobanputra, Vaidehi, Anyane-Yeboa, Kwame, Oberfield, Sharon E., Fennoy, Ilene

获取全文 获取全文 获取全文

Homozygous noncanonical splice variant in LSM1 in two siblings with multiple congenital anomalies and global developmental delay 由 Okur, Volkan, LeDuc, Charles A., Guzman, Edwin, Valivullah, Zaheer M., Anyane-Yeboa, Kwame, Chung, Wendy K.

获取全文 获取全文 获取全文

NEUROPSYCHOLOGICAL CHARACTERISTICS OF CHILDREN WITH THE 22q11 DELETION SYNDROME: A DESCRIPTIVE ANALYSIS 由 Sobin, Christina, Kiley-Brabeck, Karen, Daniels, Sarah, Khuri, Jananne, Taylor, Lisa, Blundell, Maude, Anyane-Yeboa, Kwame, Karayiorgou, Maria

获取全文 获取全文 获取全文

Presumptive Diagnosis of Pallister-Hall Syndrome Using Magnetic Resonance Imaging 由 Mehkri, Yusuf, Surapaneni, Krishna, Tarhan, Bedirhan, Eisenbach, Tiffany, Bilgili, Ahmet, Tuna, Ibrahim S, Shuhaiber, Hans H, Anyane-Yeboa, Kwame

获取全文 获取全文 获取全文

Retinoblastoma Presenting in a Child with Hypomelanosis of Ito 由 El-Sawy, Tarek, He, Lingmin, Chiang, Michael F, Anyane-Yeboa, Kwame, Morel, Kimberly D, Folberg, Robert, Marr, Brian P, Abramson, David

获取全文 获取全文 获取全文

New Diagnosis of Atypical Ataxia-Telangiectasia in a 17-Year-Old Boy with T-Cell Acute Lymphoblastic Leukemia and a Novel ATM mutation 由 Roohi, Jasmin, Crowe, Jennifer, Loredan, Denis, Anyane-Yeboa, Kwame, Mansukhani, Mahesh M., Omesi, Lenore, Levine, Jennifer, Politi, Anya Revah, Zha, Shan

获取全文 获取全文 获取全文

A CCR4-NOT Transcription Complex, Subunit 1, CNOT1, Variant Associated with Holoprosencephaly 由 Kruszka, Paul, Berger, Seth I., Weiss, Karin, Everson, Joshua L., Martinez, Ariel F., Hong, Sungkook, Anyane-Yeboa, Kwame, Lipinski, Robert J., Muenke, Maximilian

获取全文 获取全文 获取全文

Cerebro-Oculo-Facio-Skeletal Syndrome with a Nucleotide Excision–Repair Defect and a Mutated XPD Gene, with Prenatal Diagnosis in a Triplet Pregnancy 由 Graham, Jr., John M., Anyane-Yeboa, Kwame, Raams, Anja, Appeldoorn, Esther, Kleijer, Wim J., Garritsen, Victor H., Busch, David, Edersheim, Terri G., Jaspers, Nicolaas G. J.

获取全文 获取全文

Prenatal diagnosis of sickle hemoglobinopathies: The experience of the Columbia university comprehensive center for sickle cell disease 由 Driscoll, M. Catherine, Lerner, Norma, Anyane-Yeboa, Kwame, Maidman, Jack, Warburton, Dorothy, Schaefer-Rego, Kim, Hsu, Ruth, Ince, Carol, Malin, Joanne, Pallai, Michele, Mears, J. Gregory, Bank, Arthur

获取全文 获取全文

A mutation abolishing the ZMPSTE24 cleavage site in prelamin A causes a progeroid disorder 由 Wang, Yuexia, Lichter-Konecki, Uta, Anyane-Yeboa, Kwame, Shaw, Jessica E., Lu, Jonathan T., Östlund, Cecilia, Shin, Ji-Yeon, Clark, Lorraine N., Gundersen, Gregg G., Nagy, Peter L., Worman, Howard J.

获取全文 获取全文 获取全文

Familial X-Linked Acrogigantism: Postnatal Outcomes and Tumor Pathology in a Prenatally Diagnosed Infant and His Mother 由 Wise-Oringer, Brittany K, Zanazzi, George J, Gordon, Rebecca J, Wardlaw, Sharon L, William, Christopher, Anyane-Yeboa, Kwame, Chung, Wendy K, Kohn, Brenda, Wisoff, Jeffrey H, David, Raphael, Oberfield, Sharon E

获取全文 获取全文 获取全文

De novo mutations in PURA are associated with hypotonia and developmental delay 由 Tanaka, Akemi J., Bai, Renkui, Cho, Megan T., Anyane-Yeboa, Kwame, Ahimaz, Priyanka, Wilson, Ashley L., Kendall, Fran, Hay, Beverly, Moss, Timothy, Nardini, Monica, Bauer, Mislen, Retterer, Kyle, Juusola, Jane, Chung, Wendy K.

获取全文 获取全文 获取全文

Characterization of the Chromosome 1q41q42.12 region, and the Candidate Gene DISP1, in Patients with CDH 由 Kantarci, Sibel, Ackerman, Kate G, Russell, Meaghan N, Longoni, Mauro, Sougnez, Carrie, Noonan, Kristin M, Hatchwell, Eli, Zhang, Xiaoyun, Vanmarcke, Rafael Pieretti, Anyane-Yeboa, Kwame, Dickman, Paul, Wilson, Jay, Donahoe, Patricia K, Pober, Barbara R

获取全文 获取全文 获取全文

CM-AVM syndrome in a neonate: case report and treatment with a novel flow reduction strategy 由 Behr, Gerald G, Liberman, Leonardo, Compton, Jocelyn, Garzon, Maria C, Morel, Kimberly D, Lauren, Christine T, Starc, Thomas J, Kovacs, Stephen J, Beltroni, Vincent, Landres, Rachel, Anyane-Yeboa, Kwame, Meyers, Philip M, Bacha, Emile, Kandel, Jessica J

获取全文 获取全文 获取全文

The contribution of de novo and rare inherited copy number changes to congenital heart disease in an unselected sample of children with conotruncal defects or hypoplastic left hear... 由 Warburton, Dorothy, Ronemus, Michael, Kline, Jennie, Jobanputra, Vaidehi, Williams, Ismee, Anyane-Yeboa, Kwame, Chung, Wendy, Yu, Lan, Wong, Nancy, Awad, Danielle, Yu, Chih-yu, Leotta, Anthony, Kendall, Jude, Yamrom, Boris, Lee, Yoon-ha, Wigler, Michael, Levy, Dan

获取全文 获取全文 获取全文