Keller, Kory L.: search on Z-Library

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1

Autism questionnaire scores do not only rise because of autism

Fombonne, Eric, Morotti, Hadley, Mastel, Sarah, Keller, Kory, Barnard, Rebecca A, Hall, Trevor, OâRoak, Brian J

Journal:

Developmental Medicine & Child Neurology

Year:

2020

File:

PDF, 59 KB

2020

2

Autism and attentionâdeficit/hyperactivity disorders and symptoms in children with neurofibromatosis type 1

Morotti, Hadley, Mastel, Sarah, Keller, Kory, Barnard, Rebecca A, Hall, Trevor, O'Roak, Brian J, Fombonne, Eric

Journal:

Developmental Medicine & Child Neurology

Year:

2020

File:

PDF, 178 KB

2020

3

PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features

Low, Karen J, Ansari, Morad, Abou Jamra, Rami, Clarke, Angus, El Chehadeh, Salima, FitzPatrick, David R, Greenslade, Mark, Henderson, Alex, Hurst, Jane, Keller, Kory, Kuentz, Paul, Prescott, Trine, Ro

Journal:

European Journal of Human Genetics

Year:

2017

Language:

english

File:

PDF, 2.81 MB

english, 2017

4

Lobar holoprosencephaly in an infant born to a mother with classic phenylketonuria

Kory Keller, Helen McCune, Charles Williams, Maximilian Muenke

Journal:

American Journal of Medical Genetics Part A

Year:

2000

Language:

english

File:

PDF, 100 KB

english, 2000

5

De novo apparent loss-of-function mutations in PRR12 in three patients with intellectual disability and iris abnormalities

Leduc, Magalie S., Mcguire, Marianne, Madan-Khetarpal, Suneeta, Ortiz, Damara, Hayflick, Susan, Keller, Kory, Eng, Christine M., Yang, Yaping, Bi, Weimin

Journal:

Year:

2018

Language:

english

File:

PDF, 1.25 MB

english, 2018

6

Ovotestes and XY sex reversal in a female with an interstitial 9q33.3-q34.1 deletion encompassing NR5A1 and LMX1B causing features of genitopatellar syndrome

Silke Schlaubitz, Svetlana A. Yatsenko, Laurie D. Smith, Kory L. Keller, Lisenka E. Vissers, Daryl A. Scott, Wei Wen Cai, William Reardon, Omar A. Abdul-Rahman, Edward J. Lammer, Caroline A. Lifchez,

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 285 KB

english, 2007

7

Routine cytogenetic and FISH studies for 17p11/15q11 duplications and subtelomeric rearrangement studies in children with autism spectrum disorders

Kory Keller, Charles Williams, Paul Wharton, Martha Paulk, Angela Bent-Williams, Brian Gray, Angie Ward, Heather Stalker, Margaret Wallace, Randy Carter, Roberto Zori

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 123 KB

english, 2003

8

Two de novo novel mutations in one SHANK3 allele in a patient with autism and moderate intellectual disability

Zhu, Wenmiao, Li, Jianli, Chen, Stella, Zhang, Jinglan, Vetrini, Francesco, Braxton, Alicia, Eng, Christine M., Yang, Yaping, Xia, Fan, Keller, Kory L., Okinaka-Hu, Leila, Lee, Chung, Holder, J. Lloyd

Journal:

American Journal of Medical Genetics Part A

Year:

2018

Language:

english

File:

PDF, 1.38 MB

english, 2018

9

Klinefelter syndrome and cutis verticis gyrata

Kory Keller, Charles Williams, Brent Seagle

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 142 KB

english, 2001

10

Concurrence of fragile X syndrome and 47, XYY in an individual with a Prader-Willi-like phenotype

Heather J. Stalker, Kory L. Keller, Brian A. Gray, Roberto T. Zori

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 114 KB

english, 2003

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