Rezultati pretrage autora

1

The genetic basis of female reproductive disorders: Etiology and clinical testing od Lawrence C. Layman

Izdano 2013

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2

Human gene mutations causing infertility od Lawrence C. Layman

Izdano 2002

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3

Role of ART in Imprinting Disorders od Ali Eroğlu, Lawrence C. Layman

Izdano 2012

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4

Genetic considerations in the patient with Turner syndrome—45,X with or without mosaicism od Quincy Zhong, Lawrence C. Layman

Izdano 2012

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5

The Molecular Basis of Impaired Follicle-Stimulating Hormone Action: Evidence From Human Mutations and Mouse Models od Eric T. Siegel, Hyung‐Goo Kim, Hiromi Koso Nishimoto, Lawrence C. Layman

Izdano 2012

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6

The finnish follicle-stimulating hormone receptor gene mutation is rare in North american women with 46,xx ovarian failure od Lawrence C. Layman, Sewit Amde, David Cohen, Mei Jin, Jun Xie

Izdano 1998

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7

The prevalence of intragenic deletions in patients with idiopathic hypogonadotropic hypogonadism and Kallmann syndrome od Jennifer Pedersen-White, Lynn P. Chorich, David Bick, Richard J. Sherins, Lawrence C. Layman

Izdano 2008

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8

Novel MED12 gene somatic mutations in women from the Southern United States with symptomatic uterine fibroids od Sunil K. Halder, Archana Laknaur, Jessica K. Miller, Lawrence C. Layman, Michael P. Diamond, Ayman Al‐Hendy

Izdano 2014

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9

Clinical and molecular characterization of a large sample of patients with hypogonadotropic hypogonadism od Balasubramanian Bhagavath, Robert H. Podolsky, Metin Özata, Erol Bolu, David Bick, Anita S. Kulharya, Richard J. Sherins, Lawrence C. Layman

Izdano 2006

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10

Delayed Puberty and Estrogen Resistance in a Woman with Estrogen Receptor α Variant od Samuel D. Quaynor, Earl W. Stradtman, Hyung‐Goo Kim, Yiping Shen, Lynn P. Chorich, Derek A. Schreihofer, Lawrence C. Layman

Izdano 2013

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11

The Use of Whole Exome Sequencing in a Cohort of Transgender Individuals to Identify Rare Genetic Variants od J. Graham Theisen, Viji Sundaram, Mary S. Filchak, Lynn P. Chorich, Megan Sullivan, James Knight, Hyung‐Goo Kim, Lawrence C. Layman

Izdano 2019

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12

Liquid Chromatography–Tandem Mass Spectrometry Analysis of Human Adrenal Vein 19-Carbon Steroids Before and After ACTH Stimulation od Juilee Rege, Yasuhiro Nakamura, Fumitoshi Satoh, Ryo Morimoto, Michael R. Kennedy, Lawrence C. Layman, Seijiro Honma, Hironobu Sasano, William E. Rainey

Izdano 2013

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13

The prevalence of digenic mutations in patients with normosmic hypogonadotropic hypogonadism and Kallmann syndrome od Samuel D. Quaynor, Hyung‐Goo Kim, Elizabeth M. Cappello, Tiera Williams, Lynn P. Chorich, David Bick, Richard J. Sherins, Lawrence C. Layman

Izdano 2011

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14

Effects of follicle-stimulating hormone and human chorionic gonadotropin on gonadal steroidogenesis in two siblings with a follicle-stimulating hormone β subunit mutation od Adriana Lofrano‐Porto, Luíz Augusto Casulari, Paula P. Nascimento, Leonardo Giacomini, Luciana Ansaneli Naves, Lucília Domingues Casulari da Motta, Lawrence C. Layman

Izdano 2007

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15

Clinical Validation and Diagnostic Utility of Optical Genome Mapping in Prenatal Diagnostic Testing od Nikhil Sahajpal, Ashis K. Mondal, Timothy Fee, Benjamin Hilton, Lawrence C. Layman, Alex Hastie, Alka Chaubey, Barbara R. DuPont, Ravindra Kolhe

Izdano 2023

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16

MicroRNA-223 Expression Is Upregulated in Insulin Resistant Human Adipose Tissue od T.Y. Chuang, Hsiao-Li Wu, Chen-Chun Chen, Gloria Mabel Gamboa, Lawrence C. Layman, Michael P. Diamond, Ricardo Azziz, Yen‐Hao Chen

Izdano 2015

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17

Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders od Lam Son Nguyen, Hyung‐Goo Kim, Jill A. Rosenfeld, Yiping Shen, James F. Gusella, Yves Lacassie, Lawrence C. Layman, Lisa G. Shaffer, Jozef Gécz

Izdano 2013

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18

miRNA-93 Inhibits GLUT4 and Is Overexpressed in Adipose Tissue of Polycystic Ovary Syndrome Patients and Women With Insulin Resistance od Yen-Hao Chen, Saleh Heneidi, Jung Min Lee, Lawrence C. Layman, David W. Stepp, Gloria Mabel Gamboa, Bo-Shiun Chen, Gregorio D. Chazenbalk, Ricardo Azziz

Izdano 2013

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19

FSHβ Gene Mutations in a Female with Partial Breast Development and a Male Sibling with Normal Puberty and Azoospermia od Lawrence C. Layman, Adriana Lofrano Alves Porto, Jun Xie, Luíz Augusto Casulari Roxo da Motta, Lucília Domingues Casulari da Motta, W Y Weiser, Patrick M. Sluss

Izdano 2002

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20

Steric Clash in the SET Domain of Histone Methyltransferase NSD1 as a Cause of Sotos Syndrome and Its Genetic Heterogeneity in a Brazilian Cohort od Kyungsoo Ha, Priya Anand, Jennifer A. Lee, Julie R. Jones, Chong Ae Kim, Débora Romeo Bertola, Jonathan D. J. Labonne, Lawrence C. Layman, Wolfgang Wenzel, Hyung‐Goo Kim

Izdano 2016

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Rezultati pretrage - Lawrence C. Layman

The genetic basis of female reproductive disorders: Etiology and clinical testing od Lawrence C. Layman

Human gene mutations causing infertility od Lawrence C. Layman

Role of ART in Imprinting Disorders od Ali Eroğlu, Lawrence C. Layman

Genetic considerations in the patient with Turner syndrome—45,X with or without mosaicism od Quincy Zhong, Lawrence C. Layman

The Molecular Basis of Impaired Follicle-Stimulating Hormone Action: Evidence From Human Mutations and Mouse Models od Eric T. Siegel, Hyung‐Goo Kim, Hiromi Koso Nishimoto, Lawrence C. Layman

The finnish follicle-stimulating hormone receptor gene mutation is rare in North american women with 46,xx ovarian failure od Lawrence C. Layman, Sewit Amde, David Cohen, Mei Jin, Jun Xie

The prevalence of intragenic deletions in patients with idiopathic hypogonadotropic hypogonadism and Kallmann syndrome od Jennifer Pedersen-White, Lynn P. Chorich, David Bick, Richard J. Sherins, Lawrence C. Layman

Novel MED12 gene somatic mutations in women from the Southern United States with symptomatic uterine fibroids od Sunil K. Halder, Archana Laknaur, Jessica K. Miller, Lawrence C. Layman, Michael P. Diamond, Ayman Al‐Hendy

Clinical and molecular characterization of a large sample of patients with hypogonadotropic hypogonadism od Balasubramanian Bhagavath, Robert H. Podolsky, Metin Özata, Erol Bolu, David Bick, Anita S. Kulharya, Richard J. Sherins, Lawrence C. Layman

Delayed Puberty and Estrogen Resistance in a Woman with Estrogen Receptor α Variant od Samuel D. Quaynor, Earl W. Stradtman, Hyung‐Goo Kim, Yiping Shen, Lynn P. Chorich, Derek A. Schreihofer, Lawrence C. Layman

The Use of Whole Exome Sequencing in a Cohort of Transgender Individuals to Identify Rare Genetic Variants od J. Graham Theisen, Viji Sundaram, Mary S. Filchak, Lynn P. Chorich, Megan Sullivan, James Knight, Hyung‐Goo Kim, Lawrence C. Layman

Liquid Chromatography–Tandem Mass Spectrometry Analysis of Human Adrenal Vein 19-Carbon Steroids Before and After ACTH Stimulation od Juilee Rege, Yasuhiro Nakamura, Fumitoshi Satoh, Ryo Morimoto, Michael R. Kennedy, Lawrence C. Layman, Seijiro Honma, Hironobu Sasano, William E. Rainey

The prevalence of digenic mutations in patients with normosmic hypogonadotropic hypogonadism and Kallmann syndrome od Samuel D. Quaynor, Hyung‐Goo Kim, Elizabeth M. Cappello, Tiera Williams, Lynn P. Chorich, David Bick, Richard J. Sherins, Lawrence C. Layman

Clinical Validation and Diagnostic Utility of Optical Genome Mapping in Prenatal Diagnostic Testing od Nikhil Sahajpal, Ashis K. Mondal, Timothy Fee, Benjamin Hilton, Lawrence C. Layman, Alex Hastie, Alka Chaubey, Barbara R. DuPont, Ravindra Kolhe

MicroRNA-223 Expression Is Upregulated in Insulin Resistant Human Adipose Tissue od T.Y. Chuang, Hsiao-Li Wu, Chen-Chun Chen, Gloria Mabel Gamboa, Lawrence C. Layman, Michael P. Diamond, Ricardo Azziz, Yen‐Hao Chen

Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders od Lam Son Nguyen, Hyung‐Goo Kim, Jill A. Rosenfeld, Yiping Shen, James F. Gusella, Yves Lacassie, Lawrence C. Layman, Lisa G. Shaffer, Jozef Gécz

miRNA-93 Inhibits GLUT4 and Is Overexpressed in Adipose Tissue of Polycystic Ovary Syndrome Patients and Women With Insulin Resistance od Yen-Hao Chen, Saleh Heneidi, Jung Min Lee, Lawrence C. Layman, David W. Stepp, Gloria Mabel Gamboa, Bo-Shiun Chen, Gregorio D. Chazenbalk, Ricardo Azziz

FSHβ Gene Mutations in a Female with Partial Breast Development and a Male Sibling with Normal Puberty and Azoospermia od Lawrence C. Layman, Adriana Lofrano Alves Porto, Jun Xie, Luíz Augusto Casulari Roxo da Motta, Lucília Domingues Casulari da Motta, W Y Weiser, Patrick M. Sluss

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